D1441N (p.Asp1441Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
D1441N (p.Asp1441Asn) 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 Cardiovascular phenotype; Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D1441N (p.Asp1441Asn) variant details
- p.Asp1441Asn
- rs72656351
- ClinGen CA400190401
- ClinVar RCV001212241
- ClinVar RCV001508814
- Conflicting interpretations
- Cardiovascular phenotype; Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 1.00
- CADD 28.10
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Osteogenesis imperfecta type I; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)