S71C (p.Ser71Cys) variant of JAK1 (Tyrosine-protein kinase JAK1)
S71C (p.Ser71Cys) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- ESP rs367997081
- ExAC rs367997081
- gnomAD rs367997081
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.20
- CADD 29.10
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available