G1164S (p.Gly1164Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1164S (p.Gly1164Ser) 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 COL2A1-related disorder; not provided; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1164S (p.Gly1164Ser) variant details
- p.Gly1164Ser
- rs2136514646
- ClinGen CA384537460
- ClinVar RCV001382420
- ClinVar RCV002246366
- Pathogenic
- COL2A1-related disorder; not provided; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (COL2A1-related disorder; not provided; Stickler syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)