G676A (p.Gly676Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G676A (p.Gly676Ala) 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 not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G676A (p.Gly676Ala) variant details
- p.Gly676Ala
- TOPMed rs66883877
- gnomAD rs66883877
- Pathogenic/Likely pathogenic
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogene)
- EBI: Pathogenic (in OI3 and OI4)
- UniProt: Pathogenic (in OI3 and OI4)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available