A1443V (p.Ala1443Val) variant of COL1A1 (Collagen alpha-1(I) chain)
A1443V (p.Ala1443Val) 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 with normal sclerae, dominant form; Osteogenesis imperfe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A1443V (p.Ala1443Val) variant details
- p.Ala1443Val
- rs1131692326
- ClinGen CA400190313
- NCI-TCGA Cosmic COSV5680
- ClinVar RCV000496049
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.70
- MetaSVM 0.69
- SIFT 0.03
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)