G391S (p.Gly391Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G391S (p.Gly391Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G391S (p.Gly391Ser) variant details
- p.Gly391Ser
- rs67707918
- ClinGen CA162921172
- ClinVar RCV000490690
- ClinVar RCV001575452
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)