I52I (p.Ile52Ile) variant of REL (Proto-oncogene c-Rel)
I52I (p.Ile52Ile) in REL (Proto-oncogene c-Rel) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I52I (p.Ile52Ile) variant details
- p.Ile52Ile
- gnomAD 2-60894399-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available