M11V (p.Met11Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
M11V (p.Met11Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M11V (p.Met11Val) variant details
- p.Met11Val
- gnomAD 9-5022018-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.38
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.38
- CADD 17.70
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available