M3K (p.Met3Lys) variant of JAK2 (Tyrosine-protein kinase JAK2)
M3K (p.Met3Lys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M3K (p.Met3Lys) variant details
- p.Met3Lys
- gnomAD 9-5021995-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.56
- AlphaMissense 0.48
- MetaLR 0.56
- MetaSVM 0.18
- CADD 25.30
- PolyPhen-2 0.72
- Population evidence available
- Structural context available
- Literature evidence available