G2V (p.Gly2Val) variant of CR1 (Complement receptor type 1)
G2V (p.Gly2Val) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs1179458153
- gnomAD 1-207496272-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.05
- CADD 13.20
- PolyPhen-2 0.17
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available