G215V (p.Gly215Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G215V (p.Gly215Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G215V (p.Gly215Val) variant details
- p.Gly215Val
- rs1907723511
- ClinGen CA400224862
- ClinVar RCV001330773
- ClinVar RCV005634069
- Likely pathogenic
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.97
- MutPred 0.99
- ClinVar: Likely pathogenic (Osteogenesis imperfecta type I; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)