Q42H (p.Gln42His) variant of COL1A1 (Collagen alpha-1(I) chain)
Q42H (p.Gln42His) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
Q42H (p.Gln42His) variant details
- p.Gln42His
- rs1555575436
- ClinGen CA400228656
- ClinVar RCV000631510
- Ensembl rs1555575436
- Likely benign
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.26
- MutPred 0.42
- ClinVar: Likely benign (Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)