N54Y (p.Asn54Tyr) variant of REL (Proto-oncogene c-Rel)
N54Y (p.Asn54Tyr) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N54Y (p.Asn54Tyr) variant details
- p.Asn54Tyr
- gnomAD 2-60894403-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.70
- MetaLR 0.37
- MetaSVM -0.12
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available