R32C (p.Arg32Cys) variant of C5 (Complement C5)
R32C (p.Arg32Cys) in C5 (Complement C5) 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 0.25 / 1. The record also includes population frequency data and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- TOPMed rs972803297
- gnomAD rs972803297
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.91
- CADD 24.30
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00098)
- Structural context available