N54D (p.Asn54Asp) variant of REL (Proto-oncogene c-Rel)
N54D (p.Asn54Asp) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N54D (p.Asn54Asp) variant details
- p.Asn54Asp
- gnomAD 2-60894403-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.39
- MetaLR 0.29
- MetaSVM -0.53
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available