S7A (p.Ser7Ala) variant of U2AF1 (Q01081)
S7A (p.Ser7Ala) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S7A (p.Ser7Ala) variant details
- p.Ser7Ala
- gnomAD 21-43107476-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.87
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available