S68L (p.Ser68Leu) variant of C5 (Complement C5)
S68L (p.Ser68Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S68L (p.Ser68Leu) variant details
- p.Ser68Leu
- gnomAD rs1222455417
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.85
- CADD 25.70
- PolyPhen-2 0.75
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available