A3S (p.Ala3Ser) variant of CR1 (Complement receptor type 1)
A3S (p.Ala3Ser) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs1438089128
- gnomAD 1-207496274-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0987
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 7.29
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available