G18C (p.Gly18Cys) variant of CR1 (Complement receptor type 1)
G18C (p.Gly18Cys) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 1-207496319-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0779
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.03
- CADD 4.09
- PolyPhen-2 0.15
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available