D104N (p.Asp104Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
D104N (p.Asp104Asn) 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 0.25 / 1. The record also includes published literature and structural context.
D104N (p.Asp104Asn) variant details
- p.Asp104Asn
- rs1262285067
- ClinGen CA400227915
- ClinVar RCV003872671
- TOPMed rs1262285067
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- ESM-1b 0.00
- AlphaMissense 0.07
- MutPred 0.36
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)