Y55H (p.Tyr55His) variant of REL (Proto-oncogene c-Rel)
Y55H (p.Tyr55His) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Y55H (p.Tyr55His) variant details
- p.Tyr55His
- rs762750452
- gnomAD 2-60894406-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.38
- MetaLR 0.30
- MetaSVM -0.38
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available