G200V (p.Gly200Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G200V (p.Gly200Val) 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 Cardiovascular phenotype; Ehlers-Danlos syndrome, arthrochalasia type; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G200V (p.Gly200Val) variant details
- p.Gly200Val
- rs72667029
- ClinGen CA291548113
- ClinVar RCV000631480
- ClinVar RCV001091446
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Ehlers-Danlos syndrome, arthrochalasia type; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.95
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Ehlers-Danlos syndrome, arthrochalasia)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I… (PMID 18670065)
- Cited in: Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901… (PMID 1634225)