G18A (p.Gly18Ala) variant of CR1 (Complement receptor type 1)
G18A (p.Gly18Ala) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs1197723622
- gnomAD 1-207496320-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0605
- REVEL 0.00
- MetaLR 0.02
- MetaSVM -0.99
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available