M181I (p.Met181Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
M181I (p.Met181Ile) 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 Cardiovascular phenotype; Ehlers-Danlos syndrome, arthrochalasia type; Osteogene. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
M181I (p.Met181Ile) variant details
- p.Met181Ile
- rs72667022
- ClinGen CA10575534
- ClinVar RCV000018852
- ClinVar RCV001851923
- Pathogenic
- Cardiovascular phenotype; Ehlers-Danlos syndrome, arthrochalasia type; Osteogene
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- ESM-1b 1.00
- AlphaMissense 0.34
- MutPred 0.47
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of… (PMID 1867198)
- Cited in: A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal… (PMID 2767050)