L12R (p.Leu12Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
L12R (p.Leu12Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- rs1555575857
- ClinGen CA400230428
- ClinVar RCV000525857
- ClinVar RCV003230531
- Conflicting interpretations
- not specified; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- ESM-1b 1.00
- AlphaMissense 0.94
- MutPred 0.72
- ClinVar: Conflicting classifications of pathogenicity (not specified; Osteogenesis imperfecta type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)