G505S (p.Gly505Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G505S (p.Gly505Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G505S (p.Gly505Ser) variant details
- p.Gly505Ser
- rs1554396679
- ClinGen CA368222009
- ClinVar RCV002231010
- ClinVar RCV005627104
- Pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- 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)