G109R (p.Gly109Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G109R (p.Gly109Arg) 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; not specified; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- rs762315953
- ClinGen CA8645758
- ClinVar RCV000871724
- ClinVar RCV001400552
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.74
- ESM-1b 0.26
- AlphaMissense 0.16
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Osteogenesis imperfecta)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)