G18S (p.Gly18Ser) variant of CR1 (Complement receptor type 1)
G18S (p.Gly18Ser) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- rs1318306169
- gnomAD 1-207496319-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0676
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -0.98
- CADD 0.33
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available