E12K (p.Glu12Lys) variant of U2AF1 (Q01081)
E12K (p.Glu12Lys) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- cosmic curated COSV10962
- Ensembl rs2146474046
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.85
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.05
- Population evidence available
- Structural context available