I52F (p.Ile52Phe) variant of REL (Proto-oncogene c-Rel)
I52F (p.Ile52Phe) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I52F (p.Ile52Phe) variant details
- p.Ile52Phe
- gnomAD 2-60894397-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.59
- MetaLR 0.40
- MetaSVM -0.11
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available