P58L (p.Pro58Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
P58L (p.Pro58Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- gnomAD 9-5022160-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -1.01
- CADD 14.30
- PolyPhen-2 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available