V38F (p.Val38Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
V38F (p.Val38Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V38F (p.Val38Phe) variant details
- p.Val38Phe
- ExAC rs771216385
- TOPMed rs771216385
- gnomAD rs771216385
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.13
- AlphaMissense 0.10
- MetaLR 0.28
- MetaSVM -0.89
- CADD 15.10
- PolyPhen-2 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available