R312H (p.Arg312His) variant of COL1A1 (Collagen alpha-1(I) chain)
R312H (p.Arg312His) in COL1A1 (Collagen alpha-1(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; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R312H (p.Arg312His) variant details
- p.Arg312His
- rs930476771
- ClinGen CA291547212
- ClinVar RCV002277970
- ClinVar RCV003101585
- Uncertain significance
- Ehlers-Danlos syndrome; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome; Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance (in EDSCL1)
- UniProt: Uncertain significance (in EDSCL1)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)