G772S (p.Gly772Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G772S (p.Gly772Ser) 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 not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty. 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.
G772S (p.Gly772Ser) variant details
- p.Gly772Ser
- rs72658185
- ClinGen CA16618576
- ClinVar RCV000481739
- ClinVar RCV002230922
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.92
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta type I; Ehlers-Danlos synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)