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Details for CPT2:c.365C>T, p.Ser122Phe

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
53675711	53210039

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.365C>T

PROTEIN CHANGE

p.Ser122Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004139	6.21e-05	0.0	0.0	0.003479	0.0	8.793e-06	0.0001632	0.001209

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.220055	Disease causing

DBSNP ID

1 combination linked to CPT2:c.365C>T, p.Ser122Phe

1 disease linked to CPT2:c.365C>T, p.Ser122Phe

Familial acute necrotizing encephalopathy

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