C18R (p.Cys18Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
C18R (p.Cys18Arg) 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 Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- rs200278401
- ClinGen CA4346410
- ClinVar RCV000764733
- ClinVar RCV001566493
- Uncertain significance
- Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehl
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfec)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)