G329R (p.Gly329Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G329R (p.Gly329Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 1.00 / 1. The record also includes published literature and structural context.
G329R (p.Gly329Arg) variant details
- p.Gly329Arg
- rs1555574303
- ClinGen CA400221312
- ClinVar RCV000520714
- ClinVar RCV000763012
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ost
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperf)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)