G687S (p.Gly687Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G687S (p.Gly687Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spondyloepiphyseal dysplasia congenita; Stickler syndrome type 1; Autosomal domi. 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.
G687S (p.Gly687Ser) variant details
- p.Gly687Ser
- rs1939189846
- ClinGen CA16609685
- ClinVar RCV001270004
- ClinVar RCV001332046
- Pathogenic/Likely pathogenic
- Spondyloepiphyseal dysplasia congenita; Stickler syndrome type 1; Autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.99
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Spondyloepiphyseal dysplasia congenita; Stickler syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. (PMID 1951433)