Details for SOD1:c.272A>C, p.Asp91Ala

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3303960331667290
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOD1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_000454.5
CDNA CHANGE c.272A>C
PROTEIN CHANGE p.Asp91Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0014320.08.674e-050.00.00.011460.00072960.0013040.0005879

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign0.508335Disease causing
DBSNP ID NA
2 combinations linked to SOD1:c.272A>C, p.Asp91Ala OLI1621; OLI1635
1 disease linked to SOD1:c.272A>C, p.Asp91Ala Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.