S70R (p.Ser70Arg) variant of U2AF1 (Q01081)
S70R (p.Ser70Arg) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S70R (p.Ser70Arg) variant details
- p.Ser70Arg
- ExAC rs747009029
- gnomAD rs747009029
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.64
- MetaLR 0.38
- MetaSVM -0.32
- CADD 22.50
- PolyPhen-2 0.74
- SIFT 0.03
- Population evidence available
- Structural context available