Y20D (p.Tyr20Asp) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y20D (p.Tyr20Asp) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y20D (p.Tyr20Asp) variant details
- p.Tyr20Asp
- Ensembl rs906594522
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.12
- AlphaMissense 0.09
- MetaLR 0.21
- MetaSVM -0.90
- CADD 18.00
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available