G481R (p.Gly481Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G481R (p.Gly481Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Osteoge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G481R (p.Gly481Arg) variant details
- p.Gly481Arg
- rs72658120
- ClinGen CA368221857
- ClinVar RCV001914173
- Ensembl rs72658120
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Osteoge
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)