V12I (p.Val12Ile) variant of CR1 (Complement receptor type 1)
V12I (p.Val12Ile) 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.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- rs372551774
- gnomAD 1-207496301-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 3.10
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available