Details for SOD1:p.Glu22Gly

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3303214731659834
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOD1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Glu22Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.359418None
DBSNP ID NA
1 combination linked to SOD1:p.Glu22Gly OLI1701
1 disease linked to SOD1:p.Glu22Gly Amyotrophic lateral sclerosis

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