R161G (p.Arg161Gly) variant of C3 (Complement C3)
R161G (p.Arg161Gly) in C3 (Complement C3) 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 0.40 / 1. The record also includes population frequency data and structural context.
R161G (p.Arg161Gly) variant details
- p.Arg161Gly
- rs776423109
- ClinGen CA403644910
- ClinVar RCV002726953
- ExAC rs776423109
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.31
- CADD 24.10
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available