S15L (p.Ser15Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
S15L (p.Ser15Leu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S15L (p.Ser15Leu) variant details
- p.Ser15Leu
- cosmic curated COSV71686
- gnomAD rs1457535594
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.32
- CADD 26.10
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available