D83E (p.Asp83Glu) variant of REL (Proto-oncogene c-Rel)
D83E (p.Asp83Glu) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D83E (p.Asp83Glu) variant details
- p.Asp83Glu
- rs747058897
- gnomAD 2-60894492-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.28
- MetaLR 0.17
- MetaSVM -0.97
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available