R16G (p.Arg16Gly) variant of IL10RA (Q13651)
R16G (p.Arg16Gly) 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 0.16 / 1. The record also includes population frequency data and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- ExAC rs748428395
- TOPMed rs748428395
- gnomAD rs748428395
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -1.01
- CADD 5.01
- PolyPhen-2 0.12
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available