S55A (p.Ser55Ala) variant of C5 (Complement C5)
S55A (p.Ser55Ala) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S55A (p.Ser55Ala) variant details
- p.Ser55Ala
- TOPMed rs1157813308
- gnomAD rs1157813308
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.02
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available