M1T (p.Met1Thr) variant of COL1A1 (Collagen alpha-1(I) chain)
M1T (p.Met1Thr) 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 Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1567766338
- ClinGen CA400230607
- ClinVar RCV000702474
- Pathogenic
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 0.97
- AlphaMissense 0.85
- MutPred 0.88
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)