G597R (p.Gly597Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G597R (p.Gly597Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spondyloepimetaphyseal dysplasia, Strudwick type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G597R (p.Gly597Arg) variant details
- p.Gly597Arg
- rs2136564137
- ClinGen CA384550625
- cosmic curated COSV10816
- ClinVar RCV001376946
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (COL2A1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available