A57P (p.Ala57Pro) variant of JAK3 (Tyrosine-protein kinase JAK3)
A57P (p.Ala57Pro) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- Ensembl rs2147700763
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.58
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available