E11Q (p.Glu11Gln) variant of REL (Proto-oncogene c-Rel)
E11Q (p.Glu11Gln) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- rs1673220418
- gnomAD 2-60891703-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.10
- CADD 22.50
- PolyPhen-2 0.46
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available