S4F (p.Ser4Phe) variant of CR1 (Complement receptor type 1)
S4F (p.Ser4Phe) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- gnomAD 1-207496278-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.00
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available