V97A (p.Val97Ala) variant of JAK1 (Tyrosine-protein kinase JAK1)
V97A (p.Val97Ala) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V97A (p.Val97Ala) variant details
- p.Val97Ala
- ExAC rs757725554
- TOPMed rs757725554
- gnomAD rs757725554
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available