R102C (p.Arg102Cys) variant of C3 (Complement C3)
R102C (p.Arg102Cys) in C3 (Complement C3) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele C3F. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R102C (p.Arg102Cys) variant details
- p.Arg102Cys
- 1000Genomes rs2230199
- ESP rs2230199
- ExAC rs2230199
- TOPMed rs2230199
- Benign
- in allele C3F
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.09
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.07
- EBI: Benign (in allele C3F)
- UniProt: Benign (in allele C3F)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available