R16H (p.Arg16His) variant of IL10RA (Q13651)
R16H (p.Arg16His) 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 0.23 / 1. The record also includes population frequency data and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- ESP rs75769905
- ExAC rs75769905
- TOPMed rs75769905
- gnomAD rs75769905
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.20
- MetaLR 0.19
- MetaSVM -0.93
- CADD 13.10
- PolyPhen-2 0.43
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available