R59P (p.Arg59Pro) variant of COL1A1 (Collagen alpha-1(I) chain)
R59P (p.Arg59Pro) 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 not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R59P (p.Arg59Pro) variant details
- p.Arg59Pro
- rs2144594400
- ClinGen CA400228485
- ClinVar RCV001995658
- ClinVar RCV005601855
- Uncertain significance
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- ESM-1b 1.00
- AlphaMissense 0.98
- MutPred 0.57
- ClinVar: Uncertain significance (not provided; 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)