H22L (p.His22Leu) variant of IL10RA (Q13651)
H22L (p.His22Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
H22L (p.His22Leu) variant details
- p.His22Leu
- gnomAD rs1249233978
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.80
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available