G870E (p.Gly870Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G870E (p.Gly870Glu) 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 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.
G870E (p.Gly870Glu) variant details
- p.Gly870Glu
- rs886041429
- ClinGen CA384544367
- ClinVar RCV002003098
- ClinVar RCV002246638
- Pathogenic/Likely pathogenic
- not provided; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (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)