S8C (p.Ser8Cys) variant of C3 (Complement C3)
S8C (p.Ser8Cys) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- gnomAD rs1412677663
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.28
- CADD 12.30
- PolyPhen-2 0.34
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available