G822S (p.Gly822Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G822S (p.Gly822Ser) 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 not provided; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G822S (p.Gly822Ser) variant details
- p.Gly822Ser
- rs2136539942
- ClinGen CA384545069
- ClinVar RCV001564047
- ClinVar RCV005094791
- Pathogenic
- not provided; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- REVEL 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- 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)