S58N (p.Ser58Asn) variant of C5 (Complement C5)
S58N (p.Ser58Asn) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S58N (p.Ser58Asn) variant details
- p.Ser58Asn
- TOPMed rs1303441461
- gnomAD rs1303441461
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -1.03
- CADD 23.70
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available