S100C (p.Ser100Cys) variant of C5 (Complement C5)
S100C (p.Ser100Cys) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes population frequency data and structural context.
S100C (p.Ser100Cys) variant details
- p.Ser100Cys
- rs1458248752
- ClinGen CA374730130
- ClinVar RCV002603631
- TOPMed rs1458248752
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.87
- CADD 24.30
- PolyPhen-2 0.61
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available