Details for SQSTM1:c.1178G>A, p.Arg393Gln

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
179263448179836448
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SQSTM1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003900.4
CDNA CHANGE c.1178G>A
PROTEIN CHANGE p.Arg393Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00140.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.576e-056.153e-055.782e-050.00.00010870.08.82e-060.00016290.0002286

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.098486Polymorphism
DBSNP ID rs200551825
1 combination linked to SQSTM1:c.1178G>A, p.Arg393Gln OLI823
1 disease linked to SQSTM1:c.1178G>A, p.Arg393Gln Amyotrophic lateral sclerosis
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