I52T (p.Ile52Thr) variant of REL (Proto-oncogene c-Rel)
I52T (p.Ile52Thr) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- gnomAD 2-60894398-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.81
- MetaLR 0.40
- MetaSVM -0.07
- CADD 28.40
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available