I52V (p.Ile52Val) variant of REL (Proto-oncogene c-Rel)
I52V (p.Ile52Val) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- rs769651615
- gnomAD 2-60894397-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.05
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available