P37L (p.Pro37Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
P37L (p.Pro37Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- Ensembl rs748500115
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.31
- AlphaMissense 0.14
- MetaLR 0.29
- MetaSVM -0.65
- CADD 22.30
- PolyPhen-2 0.26
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available