S5A (p.Ser5Ala) variant of CR1 (Complement receptor type 1)
S5A (p.Ser5Ala) 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.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- rs1270698778
- gnomAD 1-207496280-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.02
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available