M1L (p.Met1Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
M1L (p.Met1Leu) 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 0.63 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1555575889
- ClinGen CA400230609
- ClinVar RCV002994692
- ClinGen CA400230610
- Pathogenic
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- ESM-1b 0.71
- AlphaMissense 0.36
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)