Details for NLRP3:c.1921G>A, p.Val641Met

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
247588672247425370
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NLRP3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001079821.3
CDNA CHANGE c.1921G>A
PROTEIN CHANGE p.Val641Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.210968Polymorphism
DBSNP ID NA
1 combination linked to NLRP3:c.1921G>A, p.Val641Met OLI1780
1 disease linked to NLRP3:c.1921G>A, p.Val641Met Autoinflammatory syndrome
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