L47I (p.Leu47Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
L47I (p.Leu47Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L47I (p.Leu47Ile) variant details
- p.Leu47Ile
- gnomAD 9-5022126-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.17
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.81
- CADD 18.60
- PolyPhen-2 0.13
- Population evidence available
- Structural context available
- Literature evidence available