G594R (p.Gly594Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G594R (p.Gly594Arg) 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; Spondyloepiphyse. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G594R (p.Gly594Arg) variant details
- p.Gly594Arg
- rs2136564199
- ClinGen CA384550654
- cosmic curated COSV61528
- ClinVar RCV001787261
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; not provided; Spondyloepiphyse
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (COL2A1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)