A32V (p.Ala32Val) variant of REL (Proto-oncogene c-Rel)
A32V (p.Ala32Val) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs756541045
- gnomAD 2-60891767-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.57
- MetaLR 0.41
- MetaSVM -0.04
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available