G476R (p.Gly476Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G476R (p.Gly476Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G476R (p.Gly476Arg) variant details
- p.Gly476Arg
- rs57377812
- ClinGen CA291545460
- ClinVar RCV003327333
- ClinVar RCV004701037
- Pathogenic
- not provided; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for… (PMID 21239989)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)