H44R (p.His44Arg) variant of IL10RA (Q13651)
H44R (p.His44Arg) in IL10RA (Q13651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H44R (p.His44Arg) variant details
- p.His44Arg
- gnomAD 11-117988445-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -1.02
- CADD 4.39
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available