C18G (p.Cys18Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
C18G (p.Cys18Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
C18G (p.Cys18Gly) variant details
- p.Cys18Gly
- rs200278401
- ClinGen CA368218869
- ClinVar RCV002231243
- ClinVar RCV003900118
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)