F45S (p.Phe45Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
F45S (p.Phe45Ser) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
F45S (p.Phe45Ser) variant details
- p.Phe45Ser
- Ensembl rs916019
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.38
- CADD 19.30
- PolyPhen-2 0.06
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available