Y20C (p.Tyr20Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y20C (p.Tyr20Cys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- gnomAD 9-5022046-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.46
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available