R16S (p.Arg16Ser) variant of IL10RA (Q13651)
R16S (p.Arg16Ser) 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 0.09 / 1. The record also includes population frequency data and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- ExAC rs748428395
- TOPMed rs748428395
- gnomAD rs748428395
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.04
- CADD 1.21
- PolyPhen-2 0.01
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available