P37S (p.Pro37Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
P37S (p.Pro37Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- TOPMed rs955716335
- gnomAD rs955716335
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available