G66S (p.Gly66Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G66S (p.Gly66Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G66S (p.Gly66Ser) variant details
- p.Gly66Ser
- rs1240249424
- ClinGen CA400228395
- ClinVar RCV001879379
- gnomAD rs1240249424
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.69
- ESM-1b 0.31
- AlphaMissense 0.31
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)