M53L (p.Met53Leu) variant of REL (Proto-oncogene c-Rel)
M53L (p.Met53Leu) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M53L (p.Met53Leu) variant details
- p.Met53Leu
- gnomAD 2-60894400-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.03
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available