P37R (p.Pro37Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
P37R (p.Pro37Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- rs2144594835
- ClinGen CA400228706
- ClinVar RCV002006509
- ClinVar RCV005804445
- Conflicting interpretations
- Cardiovascular phenotype; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- ESM-1b 0.23
- AlphaMissense 0.10
- MutPred 0.43
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)