R3C (p.Arg3Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
R3C (p.Arg3Cys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- TOPMed rs898585011
- gnomAD rs898585011
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.47
- CADD 24.30
- PolyPhen-2 0.10
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available