S5C (p.Ser5Cys) variant of CR1 (Complement receptor type 1)
S5C (p.Ser5Cys) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 1-207496281-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.06
- CADD 17.30
- PolyPhen-2 0.61
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available