G1128R (p.Gly1128Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1128R (p.Gly1128Arg) 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 congenita; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G1128R (p.Gly1128Arg) variant details
- p.Gly1128Arg
- rs886042612
- ClinGen CA10604474
- ClinVar RCV000292504
- Ensembl rs886042612
- Pathogenic
- Spondyloepiphyseal dysplasia congenita; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available