R97C (p.Arg97Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
R97C (p.Arg97Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; COL4A4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R97C (p.Arg97Cys) variant details
- p.Arg97Cys
- rs202096172
- ClinGen CA2145726
- ClinVar RCV002624981
- ClinVar RCV004538852
- Conflicting interpretations
- not provided; COL4A4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.42
- CADD 15.40
- PolyPhen-2 0.38
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; COL4A4-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available