G511C (p.Gly511Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G511C (p.Gly511Cys) 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 0.95 / 1. The record also includes published literature and structural context.
G511C (p.Gly511Cys) variant details
- p.Gly511Cys
- rs72658125
- ClinGen CA368222048
- ClinVar RCV003140431
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Likely pathogenic (in OI2)
- UniProt: Likely pathogenic (in OI2)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)