G585D (p.Gly585Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G585D (p.Gly585Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G585D (p.Gly585Asp) variant details
- p.Gly585Asp
- rs1939319350
- ClinGen CA384550745
- ClinVar RCV003459034
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)