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Details for CYP21A2:c.844G>T, p.Val282Leu

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
32007887	32040110

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.844G>T

PROTEIN CHANGE

p.Val282Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005284	0.002954	0.01338	0.02329	0.000932	0.00088	0.004469	0.008647	0.0003294

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.469376	Disease causing

DBSNP ID

1 combination linked to CYP21A2:c.844G>T, p.Val282Leu

1 disease linked to CYP21A2:c.844G>T, p.Val282Leu

Primary ovarian failure

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