G646V (p.Gly646Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G646V (p.Gly646Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta, perinatal lethal; Combined osteogenesis imperfecta and. 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.
G646V (p.Gly646Val) variant details
- p.Gly646Val
- rs72658150
- ClinGen CA162930336
- ClinVar RCV000490755
- ClinVar RCV002279260
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; Combined osteogenesis imperfecta and
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.99
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; Combined osteogenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)