G130V (p.Gly130Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G130V (p.Gly130Val) 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; Osteogenesis imperfecta type III; Com. 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.
G130V (p.Gly130Val) variant details
- p.Gly130Val
- rs72656360
- ClinGen CA368219666
- ClinVar RCV000710787
- ClinVar RCV001861953
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Com
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.98
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)