A2D (p.Ala2Asp) variant of REL (Proto-oncogene c-Rel)
A2D (p.Ala2Asp) in REL (Proto-oncogene c-Rel) 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, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 2-60881845-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -0.99
- CADD 24.60
- PolyPhen-2 0.33
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available