V6I (p.Val6Ile) variant of IL10RA (Q13651)
V6I (p.Val6Ile) 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 0.12 / 1. The record also includes population frequency data and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- TOPMed rs989694807
- gnomAD rs989694807
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.11
- MetaLR 0.17
- MetaSVM -0.94
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available