Details for NLRP3:c.592G>A, p.Val198Met

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
247587343247424041
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NLRP3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001079821.3
CDNA CHANGE c.592G>A
PROTEIN CHANGE p.Val198Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0040.00.00860.00.01190.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0083160.0012320.004080.013015.437e-050.023170.009280.0086490.006142

ESP
AAEA
0.0015890.009535
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.769166Polymorphism
DBSNP ID rs121908147
1 combination linked to NLRP3:c.592G>A, p.Val198Met OLI411
1 disease linked to NLRP3:c.592G>A, p.Val198Met Familial Mediterranean fever
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