Details for PROKR2:p.Arg85Leu

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52947625314116
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg85Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00430.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00032616.152e-050.00043360.00.04.619e-050.00050980.001140.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.996588Disease causing
DBSNP ID rs74315418
2 combinations linked to PROKR2:p.Arg85Leu OLI204; OLI648
1 disease linked to PROKR2:p.Arg85Leu Kallmann syndrome
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