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Details for SQSTM1:c.712A>G, p.Lys238Glu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179252184	179825184

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.712A>G

PROTEIN CHANGE

p.Lys238Glu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0023	0.0072	0.0	0.003	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002816	0.001169	0.002949	0.0	0.0	0.0005548	0.003632	0.003584	0.004573

ESP
AA	EA
0.0009079	0.003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.443617	Polymorphism

DBSNP ID

2 combinations linked to SQSTM1:c.712A>G, p.Lys238Glu

OLI1430; OLI275

2 diseases linked to SQSTM1:c.712A>G, p.Lys238Glu

Hypogonadotropic hypogonadism with absent puberty phenotype; Amyotrophic lateral sclerosis

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