A5E (p.Ala5Glu) variant of REL (Proto-oncogene c-Rel)
A5E (p.Ala5Glu) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- rs146326268
- gnomAD 2-60891686-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.03
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available