M1V (p.Met1Val) variant of COL1A1 (Collagen alpha-1(I) chain)
M1V (p.Met1Val) 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 0.73 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1555575889
- ClinGen CA400230611
- ClinVar RCV000631497
- ClinVar RCV001796147
- Pathogenic
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- ESM-1b 0.93
- AlphaMissense 0.26
- MutPred 0.85
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)