R7K (p.Arg7Lys) variant of CR1 (Complement receptor type 1)
R7K (p.Arg7Lys) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- gnomAD 1-207496287-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.08
- CADD 23.10
- PolyPhen-2 0.82
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available