G664D (p.Gly664Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G664D (p.Gly664Asp) 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 0.98 / 1. The record also includes published literature and structural context.
G664D (p.Gly664Asp) variant details
- p.Gly664Asp
- rs72658154
- ClinGen CA260348
- ClinVar RCV000029595
- ClinVar RCV001781322
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)