G469A (p.Gly469Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G469A (p.Gly469Ala) 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 Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G469A (p.Gly469Ala) variant details
- p.Gly469Ala
- rs72658119
- ClinGen CA162925041
- ClinVar RCV000490679
- ClinVar RCV005222965
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.68
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Ehle)
- 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)