G109V (p.Gly109Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G109V (p.Gly109Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta, perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G109V (p.Gly109Val) variant details
- p.Gly109Val
- rs1114167416
- ClinGen CA368219524
- ClinVar RCV001542467
- Ensembl rs1114167416
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.96
- CADD 28.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Pathogenic (in OIEDS2)
- UniProt: Pathogenic (in OIEDS2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)