E30V (p.Glu30Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
E30V (p.Glu30Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. 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.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- ExAC rs768272377
- gnomAD rs768272377
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.05
- CADD 19.70
- Population evidence available
- Structural context available