R312C (p.Arg312Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
R312C (p.Arg312Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteogenesis impe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R312C (p.Arg312Cys) variant details
- p.Arg312Cys
- rs72645347
- ClinGen CA281095
- ClinVar RCV000018884
- ClinVar RCV000415259
- Pathogenic/Likely pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteogenesis impe
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; O)
- EBI: Pathogenic (in EDSCL1)
- UniProt: Pathogenic (in EDSCL1)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. (PMID 10739762)
- Cited in: Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a… (PMID 17211858)