Details for IL17RD:p.Ile329Met

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5713538457101356
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IL17RD
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ile329Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.503e-060.00.00.00.00011480.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.471825Disease causing
DBSNP ID rs143634778
1 combination linked to IL17RD:p.Ile329Met OLI357
1 disease linked to IL17RD:p.Ile329Met Kallmann syndrome
Found any issues with the data on this page? Report this entry.