Details for SQSTM1:c.822G>C, p.Glu274Asp

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
179260099179833099
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SQSTM1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_003900.4
CDNA CHANGE c.822G>C
PROTEIN CHANGE p.Glu274Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0090.00.00720.00.02390.0164

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.017820.0039380.0089330.049540.00043490.017460.022660.020050.01705

ESP
AAEA
0.0056740.02535
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.1773Polymorphism
DBSNP ID rs55793208
2 combinations linked to SQSTM1:c.822G>C, p.Glu274Asp OLI633; OLI636
1 disease linked to SQSTM1:c.822G>C, p.Glu274Asp Amyotrophic lateral sclerosis
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