S69F (p.Ser69Phe) variant of JAK3 (Tyrosine-protein kinase JAK3)
S69F (p.Ser69Phe) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S69F (p.Ser69Phe) variant details
- p.Ser69Phe
- ExAC rs747943549
- gnomAD rs747943549
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available