D70E (p.Asp70Glu) variant of REL (Proto-oncogene c-Rel)
D70E (p.Asp70Glu) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- gnomAD 2-60894453-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -1.00
- CADD 11.10
- PolyPhen-2 0.06
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available