G482R (p.Gly482Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G482R (p.Gly482Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ost. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G482R (p.Gly482Arg) variant details
- p.Gly482Arg
- rs72648344
- ClinGen CA400217650
- ClinVar RCV003010240
- ClinGen CA291545442
- Pathogenic
- Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ost
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)