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Details for CHCHD10:c.239C>T, p.Pro80Leu

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
24109583	23767396

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.239C>T

PROTEIN CHANGE

p.Pro80Leu

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
0.0003164	0.0	0.0004117	0.003285	0.0	0.0	0.0002281	0.0001716	0.0001342

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.992121	Disease causing

DBSNP ID

1 combination linked to CHCHD10:c.239C>T, p.Pro80Leu

1 disease linked to CHCHD10:c.239C>T, p.Pro80Leu

Amyotrophic lateral sclerosis

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