P58A (p.Pro58Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
P58A (p.Pro58Ala) 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, published literature, and structural context.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- gnomAD 9-5022159-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.14
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -0.97
- CADD 11.30
- PolyPhen-2 0.20
- Population evidence available
- Structural context available
- Literature evidence available