H22R (p.His22Arg) variant of IL10RA (Q13651)
H22R (p.His22Arg) in IL10RA (Q13651) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H22R (p.His22Arg) variant details
- p.His22Arg
- gnomAD rs1249233978
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.20
- MetaLR 0.28
- MetaSVM -0.90
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available