E27D (p.Glu27Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
E27D (p.Glu27Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs2115851777
- ClinGen CA368218943
- ClinVar RCV002030273
- Ensembl rs2115851777
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.20
- CADD 36.00
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)