G171C (p.Gly171Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G171C (p.Gly171Cys) 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 Stickler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G171C (p.Gly171Cys) variant details
- p.Gly171Cys
- TOPMed rs958614345
- gnomAD rs958614345
- Likely pathogenic
- Stickler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.97
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Stickler syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available