A31V (p.Ala31Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
A31V (p.Ala31Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- Ensembl rs962905354
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available