G676R (p.Gly676Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G676R (p.Gly676Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G676R (p.Gly676Arg) variant details
- p.Gly676Arg
- rs749663226
- ExAC rs749663226
- UniProt VAR 013584
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in STL2)
- UniProt: Pathogenic (in STL2)
- Structural context available
- Cited in: Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping… (PMID 10486316)
- Cited in: Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (PMID 20513134)