N54K (p.Asn54Lys) variant of REL (Proto-oncogene c-Rel)
N54K (p.Asn54Lys) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N54K (p.Asn54Lys) variant details
- p.Asn54Lys
- gnomAD 2-60894405-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.45
- MetaLR 0.29
- MetaSVM -0.47
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available