G400A (p.Gly400Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G400A (p.Gly400Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Ehlers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G400A (p.Gly400Ala) variant details
- p.Gly400Ala
- TOPMed rs1215651130
- gnomAD rs1215651130
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available