G277A (p.Gly277Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G277A (p.Gly277Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G277A (p.Gly277Ala) variant details
- p.Gly277Ala
- rs752431578
- ClinGen CA4346841
- ClinVar RCV002046789
- ClinVar RCV002466705
- Pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.89
- CADD 25.00
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)