Y62H (p.Tyr62His) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y62H (p.Tyr62His) 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, published literature, and structural context.
Y62H (p.Tyr62His) variant details
- p.Tyr62His
- gnomAD 9-5022171-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- AlphaMissense 0.34
- MetaLR 0.22
- MetaSVM -0.77
- CADD 23.60
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available