L12P (p.Leu12Pro) variant of COL1A1 (Collagen alpha-1(I) chain)
L12P (p.Leu12Pro) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs1555575857
- ClinGen CA400230427
- ClinVar RCV001223346
- Ensembl rs1555575857
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- ESM-1b 1.00
- AlphaMissense 0.85
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)