N54S (p.Asn54Ser) variant of REL (Proto-oncogene c-Rel)
N54S (p.Asn54Ser) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- gnomAD 2-60894404-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.48
- MetaLR 0.34
- MetaSVM -0.29
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available