G873W (p.Gly873Trp) variant of COL2A1 (Collagen alpha-1(II) chain)
G873W (p.Gly873Trp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stickler syndrome type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G873W (p.Gly873Trp) variant details
- p.Gly873Trp
- rs886041713
- ClinGen CA10603262
- ClinVar RCV000335506
- ClinVar RCV002248504
- Pathogenic
- Stickler syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.99
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Stickler syndrome type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)