S40G (p.Ser40Gly) variant of REL (Proto-oncogene c-Rel)
S40G (p.Ser40Gly) 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.
S40G (p.Ser40Gly) variant details
- p.Ser40Gly
- rs1673222296
- gnomAD 2-60891790-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.47
- MetaLR 0.44
- MetaSVM 0.10
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available