Details for IL10RB:p.Ala44Val

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3464078033268475
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IL10RB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala44Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00041750.00.00.00.0055450.08.791e-060.00032570.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.496827Polymorphism
DBSNP ID NA
1 combination linked to IL10RB:p.Ala44Val OLI1719
1 disease linked to IL10RB:p.Ala44Val Common variable immunodeficiency

Found any issues with the data on this page? Report this entry.