A25P (p.Ala25Pro) variant of JAK3 (Tyrosine-protein kinase JAK3)
A25P (p.Ala25Pro) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- ExAC rs761209690
- gnomAD rs761209690
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.30
- CADD 16.60
- PolyPhen-2 0.54
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available