P37A (p.Pro37Ala) variant of JAK3 (Tyrosine-protein kinase JAK3)
P37A (p.Pro37Ala) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- cosmic curated COSV71685
- TOPMed rs955716335
- gnomAD rs955716335
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.14
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available