Details for MEFV:p.Met694Val

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32934073243407
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MEFV
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Met694Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00028236.152e-050.00026020.00.00.00.00048350.00097750.0

ESP
AAEA
0.00.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.633726Disease causing
DBSNP ID rs61752717
1 combination linked to MEFV:p.Met694Val OLI413
1 disease linked to MEFV:p.Met694Val Familial Mediterranean fever
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