G18V (p.Gly18Val) variant of CR1 (Complement receptor type 1)
G18V (p.Gly18Val) 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.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs1197723622
- gnomAD 1-207496320-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0655
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.02
- CADD 2.50
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available