G109D (p.Gly109Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G109D (p.Gly109Asp) 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 not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G109D (p.Gly109Asp) variant details
- p.Gly109Asp
- rs372159426
- ClinGen CA8645757
- ClinVar RCV001920830
- ClinVar RCV002276929
- Conflicting interpretations
- not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteogenesis imperfecta type I; Ehlers-Danlos synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)