G657S (p.Gly657Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G657S (p.Gly657Ser) 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 type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G657S (p.Gly657Ser) variant details
- p.Gly657Ser
- rs1269619781
- ClinGen CA384548471
- ClinVar RCV000988826
- gnomAD rs1269619781
- Likely pathogenic
- Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Likely pathogenic (Stickler syndrome type 1)
- 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)