G57R (p.Gly57Arg) variant of REL (Proto-oncogene c-Rel)
G57R (p.Gly57Arg) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- gnomAD 2-60894412-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.59
- MetaLR 0.52
- MetaSVM 0.23
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available