E3Q (p.Glu3Gln) variant of U2AF1 (Q01081)
E3Q (p.Glu3Gln) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- gnomAD 21-43107488-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.57
- CADD 23.60
- PolyPhen-2 0.24
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available