A57V (p.Ala57Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
A57V (p.Ala57Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- Ensembl rs2101264379
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.14
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available