G750R (p.Gly750Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G750R (p.Gly750Arg) 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 Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G750R (p.Gly750Arg) variant details
- p.Gly750Arg
- rs2136549103
- ClinGen CA384546104
- ClinVar RCV002278848
- Ensembl rs2136549103
- Pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.04
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Connective tissue disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available