G1152R (p.Gly1152Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1152R (p.Gly1152Arg) 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 Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G1152R (p.Gly1152Arg) variant details
- p.Gly1152Arg
- rs1592198747
- ClinGen CA384537543
- ClinVar RCV000824844
- Ensembl rs1592198747
- Pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available