G109S (p.Gly109Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G109S (p.Gly109Ser) 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 Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G109S (p.Gly109Ser) variant details
- p.Gly109Ser
- rs762315953
- ClinGen CA291550745
- ClinVar RCV002014812
- ClinVar RCV003225208
- Uncertain significance
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)