G661C (p.Gly661Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G661C (p.Gly661Cys) 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 type I; Ehlers-Danlos syndrome, classic type, 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G661C (p.Gly661Cys) variant details
- p.Gly661Cys
- rs72658152
- ClinGen CA368223002
- ClinVar RCV002242823
- ClinVar RCV005630938
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.67
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)