S70C (p.Ser70Cys) variant of U2AF1 (Q01081)
S70C (p.Ser70Cys) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S70C (p.Ser70Cys) variant details
- p.Ser70Cys
- gnomAD 21-43095735-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.85
- MetaLR 0.44
- MetaSVM 0.06
- CADD 27.20
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available