A5V (p.Ala5Val) variant of REL (Proto-oncogene c-Rel)
A5V (p.Ala5Val) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs146326268
- gnomAD 2-60891686-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.05
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available