G495E (p.Gly495Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G495E (p.Gly495Glu) 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 Stickler syndrome type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G495E (p.Gly495Glu) variant details
- p.Gly495Glu
- rs2136571080
- ClinGen CA384552620
- ClinVar RCV002249003
- ClinVar RCV005095815
- Pathogenic/Likely pathogenic
- Stickler syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Stickler syndrome type 1; not provided)
- 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)