G788S (p.Gly788Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G788S (p.Gly788Ser) 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 COL1A1-related disorder; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G788S (p.Gly788Ser) variant details
- p.Gly788Ser
- rs67879854
- ClinGen CA291543403
- NCI-TCGA Cosmic COSV5680
- ClinVar RCV000516519
- Pathogenic
- COL1A1-related disorder; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenes
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 0.81
- ClinVar: Pathogenic (COL1A1-related disorder; Ehlers-Danlos syndrome, arthrochalasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)