L19S (p.Leu19Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
L19S (p.Leu19Ser) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L19S (p.Leu19Ser) variant details
- p.Leu19Ser
- ExAC rs745658193
- gnomAD rs745658193
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available