S5P (p.Ser5Pro) variant of CR1 (Complement receptor type 1)
S5P (p.Ser5Pro) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 1-207496280-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.03
- CADD 15.40
- PolyPhen-2 0.35
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available