V32L (p.Val32Leu) variant of IL10RA (Q13651)
V32L (p.Val32Leu) 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 0.49 / 1. The record also includes population frequency data and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- TOPMed rs920051155
- gnomAD rs920051155
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.47
- MetaLR 0.39
- MetaSVM -0.30
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available