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Details for ANG:c.407C>T, p.Pro136Leu

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
21162130	20693971

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.407C>T

PROTEIN CHANGE

p.Pro136Leu

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
1.59e-05	0.0	2.891e-05	0.0	0.0	0.0	2.637e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.981738	Disease causing

DBSNP ID

1 combination linked to ANG:c.407C>T, p.Pro136Leu

1 disease linked to ANG:c.407C>T, p.Pro136Leu

Amyotrophic lateral sclerosis

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