E11A (p.Glu11Ala) variant of REL (Proto-oncogene c-Rel)
E11A (p.Glu11Ala) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E11A (p.Glu11Ala) variant details
- p.Glu11Ala
- rs763065273
- gnomAD 2-60891704-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.42
- MetaLR 0.31
- MetaSVM -0.40
- CADD 26.10
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available