S31C (p.Ser31Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
S31C (p.Ser31Cys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- gnomAD 9-5022079-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.22
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.78
- CADD 15.60
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available