Details for NLRP3:c.592G>A, p.Val200Met

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
247587343247424041
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NLRP3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001079821.3
CDNA CHANGE c.592G>A
PROTEIN CHANGE p.Val200Met
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
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.769166Polymorphism
DBSNP ID NA
3 combinations linked to NLRP3:c.592G>A, p.Val200Met OLI1768; OLI1771; OLI1788
1 disease linked to NLRP3:c.592G>A, p.Val200Met Autoinflammatory syndrome
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