A16E (p.Ala16Glu) variant of CR1 (Complement receptor type 1)
A16E (p.Ala16Glu) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- rs774774612
- gnomAD 1-207496314-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.069
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.01
- CADD 3.75
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available