G130D (p.Gly130Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G130D (p.Gly130Asp) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G130D (p.Gly130Asp) variant details
- p.Gly130Asp
- rs72656360
- ClinGen CA162914426
- ClinVar RCV000991603
- ClinVar RCV002231244
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.98
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)