G767S (p.Gly767Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G767S (p.Gly767Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, arthrochalasia type; Osteoporosis; Osteogenesis imperfec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G767S (p.Gly767Ser) variant details
- p.Gly767Ser
- rs72651658
- ClinGen CA291543892
- NCI-TCGA Cosmic COSV5680
- ClinVar RCV000657898
- Pathogenic
- Ehlers-Danlos syndrome, arthrochalasia type; Osteoporosis; Osteogenesis imperfec
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 29.20
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, arthrochalasia type; Osteoporosis; Osteo)
- EBI: Pathogenic (in OI3 and OI1)
- UniProt: Pathogenic (in OI3 and OI1)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. (PMID 27519266)