G474S (p.Gly474Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G474S (p.Gly474Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G474S (p.Gly474Ser) variant details
- p.Gly474Ser
- rs2136571594
- ClinGen CA384552980
- ClinVar RCV002278830
- Ensembl rs2136571594
- Likely pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.98
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available