Y56H (p.Tyr56His) variant of REL (Proto-oncogene c-Rel)
Y56H (p.Tyr56His) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Y56H (p.Tyr56His) variant details
- p.Tyr56His
- rs1354900743
- gnomAD 2-60894409-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available