A2V (p.Ala2Val) variant of REL (Proto-oncogene c-Rel)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 2-60881845-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.16
- MetaLR 0.05
- MetaSVM -1.01
- CADD 24.30
- PolyPhen-2 0.10
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available