Details for PROKR2:c.653T>C, p.Leu218Pro

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52831885302542
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_144773.3
CDNA CHANGE c.653T>C
PROTEIN CHANGE p.Leu218Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.772e-050.00.00.00.00010870.00018482.637e-050.00048860.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.190722Polymorphism
DBSNP ID rs774883653
1 combination linked to PROKR2:c.653T>C, p.Leu218Pro OLI863
1 disease linked to PROKR2:c.653T>C, p.Leu218Pro Kallmann syndrome
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