G94R (p.Gly94Arg) variant of REL (Proto-oncogene c-Rel)
G94R (p.Gly94Arg) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G94R (p.Gly94Arg) variant details
- p.Gly94Arg
- rs765668256
- gnomAD 2-60894523-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.41
- MetaLR 0.25
- MetaSVM -0.71
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available