S15P (p.Ser15Pro) variant of JAK2 (Tyrosine-protein kinase JAK2)
S15P (p.Ser15Pro) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD rs1266649645
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.13
- AlphaMissense 0.08
- MetaLR 0.28
- MetaSVM -0.84
- CADD 18.40
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available