M8V (p.Met8Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
M8V (p.Met8Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
M8V (p.Met8Val) variant details
- p.Met8Val
- gnomAD 9-5022009-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.14
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -1.02
- CADD 7.11
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available