P34A (p.Pro34Ala) variant of JAK1 (Tyrosine-protein kinase JAK1)
P34A (p.Pro34Ala) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- 1000Genomes rs115541740
- ESP rs115541740
- ExAC rs115541740
- TOPMed rs115541740
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.08
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available