A1387T (p.Ala1387Thr) variant of COL1A1 (Collagen alpha-1(I) chain)
A1387T (p.Ala1387Thr) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta type III; Osteogenesis imperfecta, perinatal lethal; Ost. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
A1387T (p.Ala1387Thr) variant details
- p.Ala1387Thr
- rs1598284183
- ClinGen CA400191818
- ClinVar RCV003094078
- ClinVar RCV005252144
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type III; Osteogenesis imperfecta, perinatal lethal; Ost
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- ESM-1b 0.77
- AlphaMissense 0.84
- MetaLR 0.46
- MetaSVM -0.15
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type III; Osteogenesis imperfecta, perin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)