R16L (p.Arg16Leu) variant of IL10RA (Q13651)
R16L (p.Arg16Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- ESP rs75769905
- ExAC rs75769905
- TOPMed rs75769905
- gnomAD rs75769905
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -1.00
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 0.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available