F82S (p.Phe82Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
F82S (p.Phe82Ser) 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.
F82S (p.Phe82Ser) variant details
- p.Phe82Ser
- cosmic curated COSV10895
- ExAC rs201587905
- gnomAD rs201587905
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.53
- CADD 25.30
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available