G224V (p.Gly224Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G224V (p.Gly224Val) 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 0.99 / 1. The record also includes published literature and structural context.
G224V (p.Gly224Val) variant details
- p.Gly224Val
- rs1555574641
- ClinGen CA400224671
- ClinVar RCV000522435
- ClinVar RCV000532521
- Pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.96
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)