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Details for PRF1:c.1310C>T, p.Ala437Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72358167	70598411

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1310C>T

PROTEIN CHANGE

p.Ala437Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007301	0.0003704	5.784e-05	0.0005957	0.0	0.0	0.001168	0.0006532	0.001078

ESP
AA	EA
0.0	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.262159	Disease causing

DBSNP ID

1 combination linked to PRF1:c.1310C>T, p.Ala437Val

1 disease linked to PRF1:c.1310C>T, p.Ala437Val

Familial hemophagocytic lymphohistiocytosis

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