S71F (p.Ser71Phe) variant of JAK1 (Tyrosine-protein kinase JAK1)
S71F (p.Ser71Phe) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- ESP rs367997081
- ExAC rs367997081
- gnomAD rs367997081
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.28
- CADD 29.50
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available