G679S (p.Gly679Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G679S (p.Gly679Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, classic type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G679S (p.Gly679Ser) variant details
- p.Gly679Ser
- rs1584325552
- ClinGen CA368223115
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51958
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, classic type
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)