G203V (p.Gly203Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G203V (p.Gly203Val) 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 not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G203V (p.Gly203Val) variant details
- p.Gly203Val
- rs72667031
- ClinGen CA291548107
- ClinVar RCV000526144
- ClinVar RCV001580124
- Pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.94
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI3 and OIEDS1)
- UniProt: Pathogenic (in OI3 and OIEDS1)
- Structural context available
- Cited in: Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by… (PMID 15728585)
- Cited in: Osteogenesis imperfecta: clinical, biochemical and molecular findings. (PMID 16879195)