S50T (p.Ser50Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
S50T (p.Ser50Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S50T (p.Ser50Thr) variant details
- p.Ser50Thr
- gnomAD 9-5022135-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.09
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.09
- CADD 12.70
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available