F1326C (p.Phe1326Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
F1326C (p.Phe1326Cys) 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, perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
F1326C (p.Phe1326Cys) variant details
- p.Phe1326Cys
- rs2509159786
- ClinGen CA400193142
- ClinVar RCV003219187
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)