G1102D (p.Gly1102Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G1102D (p.Gly1102Asp) 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 not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G1102D (p.Gly1102Asp) variant details
- p.Gly1102Asp
- rs68063264
- ClinGen CA4347734
- ClinVar RCV003781069
- ClinVar RCV005627132
- Pathogenic
- not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.88
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I; Ehlers-Danlos synd)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)