P37L (p.Pro37Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
P37L (p.Pro37Leu) 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.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- ExAC rs200960683
- TOPMed rs200960683
- gnomAD rs200960683
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.18
- CADD 19.70
- PolyPhen-2 0.21
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available