A50P (p.Ala50Pro) variant of JAK3 (Tyrosine-protein kinase JAK3)
A50P (p.Ala50Pro) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A50P (p.Ala50Pro) variant details
- p.Ala50Pro
- gnomAD rs1363017670
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.73
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available