M11K (p.Met11Lys) variant of JAK2 (Tyrosine-protein kinase JAK2)
M11K (p.Met11Lys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
M11K (p.Met11Lys) variant details
- p.Met11Lys
- gnomAD 9-5022019-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.46
- AlphaMissense 0.20
- MetaLR 0.38
- MetaSVM -0.27
- CADD 23.10
- PolyPhen-2 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available