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Details for PRF1:c.272C>T, p.Ala91Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72360387	70600631

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.272C>T

PROTEIN CHANGE

p.Ala91Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0132	0.0015	0.0216	0.001	0.0457	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.02932	0.00574	0.02303	0.02668	0.0001634	0.02615	0.04662	0.03597	0.004317

ESP
AA	EA
0.009305	0.04628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.027731	Disease causing

DBSNP ID

10 combinations linked to PRF1:c.272C>T, p.Ala91Val

OLI523; OLI525; OLI526; OLI527; OLI529; OLI531; OLI534; OLI535; OLI537; OLI539

1 disease linked to PRF1:c.272C>T, p.Ala91Val

Familial hemophagocytic lymphohistiocytosis

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