M53I (p.Met53Ile) variant of REL (Proto-oncogene c-Rel)
M53I (p.Met53Ile) in REL (Proto-oncogene c-Rel) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M53I (p.Met53Ile) variant details
- p.Met53Ile
- gnomAD 2-60894401-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available