S112A (p.Ser112Ala) variant of C5 (Complement C5)
S112A (p.Ser112Ala) in C5 (Complement C5) 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 and structural context.
S112A (p.Ser112Ala) variant details
- p.Ser112Ala
- Ensembl rs2047595090
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.03
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available