G759R (p.Gly759Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G759R (p.Gly759Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Type 2 collagenopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G759R (p.Gly759Arg) variant details
- p.Gly759Arg
- rs2136548994
- ClinGen CA384545980
- ClinVar RCV001939515
- ClinVar RCV002272538
- Pathogenic
- not provided; Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (not provided; Type 2 collagenopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)