Details for PROKR2:p.Val331Met

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52828505302204
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val331Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01220.00.00.02780.00.0337

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0062030.00.00011560.00.03180.00.00030770.0030940.02995

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.504701Polymorphism
DBSNP ID rs117106081
1 combination linked to PROKR2:p.Val331Met OLI207
1 disease linked to PROKR2:p.Val331Met Kallmann syndrome
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