P58T (p.Pro58Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
P58T (p.Pro58Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- gnomAD 9-5022159-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -1.01
- CADD 12.60
- PolyPhen-2 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available