A58V (p.Ala58Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
A58V (p.Ala58Val) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- Ensembl rs2147700747
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.65
- CADD 27.80
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available