P47S (p.Pro47Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
P47S (p.Pro47Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- Ensembl rs1644804126
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.04
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available