L3V (p.Leu3Val) variant of C5 (Complement C5)
L3V (p.Leu3Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- ExAC rs765922791
- TOPMed rs765922791
- gnomAD rs765922791
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.06
- CADD 10.80
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available