L19F (p.Leu19Phe) variant of CR1 (Complement receptor type 1)
L19F (p.Leu19Phe) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs575513177
- gnomAD 1-207496322-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.03
- CADD 13.00
- PolyPhen-2 0.40
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available