G784R (p.Gly784Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G784R (p.Gly784Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fibrochondrogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G784R (p.Gly784Arg) variant details
- p.Gly784Arg
- rs387906611
- ClinGen CA128539
- ClinVar RCV001804155
- Ensembl rs387906611
- Pathogenic
- Fibrochondrogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Fibrochondrogenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. (PMID 21035103)