Details for ALS2:p.Ser654Gly

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
202611327201746604
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALS2
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ser654Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.202e-050.00.00.00.00.02.649e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.966518Polymorphism
DBSNP ID rs61757690
1 combination linked to ALS2:p.Ser654Gly OLI772
1 disease linked to ALS2:p.Ser654Gly Amyotrophic lateral sclerosis
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