D53Y (p.Asp53Tyr) variant of JAK2 (Tyrosine-protein kinase JAK2)
D53Y (p.Asp53Tyr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D53Y (p.Asp53Tyr) variant details
- p.Asp53Tyr
- ExAC rs761608925
- gnomAD rs761608925
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.14
- AlphaMissense 0.14
- MetaLR 0.19
- MetaSVM -0.88
- CADD 23.20
- PolyPhen-2 0.37
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available