G376V (p.Gly376Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G376V (p.Gly376Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Com. 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.
G376V (p.Gly376Val) variant details
- p.Gly376Val
- rs67543427
- ClinGen CA162921116
- ClinVar RCV002233375
- ClinVar RCV002477619
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Com
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.99
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)