A4D (p.Ala4Asp) variant of JAK2 (Tyrosine-protein kinase JAK2)
A4D (p.Ala4Asp) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- ExAC rs773675185
- TOPMed rs773675185
- gnomAD rs773675185
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- AlphaMissense 0.63
- MetaLR 0.63
- MetaSVM 0.31
- CADD 24.80
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available