Y72C (p.Tyr72Cys) variant of REL (Proto-oncogene c-Rel)
Y72C (p.Tyr72Cys) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y72C (p.Tyr72Cys) variant details
- p.Tyr72Cys
- rs184939650
- gnomAD 2-60894458-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- MetaLR 0.23
- MetaSVM -0.69
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available