G246V (p.Gly246Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G246V (p.Gly246Val) 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 Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G246V (p.Gly246Val) variant details
- p.Gly246Val
- rs2136616311
- ClinGen CA384523264
- ClinVar RCV002249380
- Ensembl rs2136616311
- Pathogenic
- Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (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)