L19H (p.Leu19His) variant of CR1 (Complement receptor type 1)
L19H (p.Leu19His) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L19H (p.Leu19His) variant details
- p.Leu19His
- rs1255951917
- gnomAD 1-207496323-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.06
- CADD 19.90
- PolyPhen-2 0.67
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available