G348D (p.Gly348Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G348D (p.Gly348Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spondyloepimetaphyseal dysplasia, Strudwick type; Kniest dysplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G348D (p.Gly348Asp) variant details
- p.Gly348Asp
- rs2136590361
- ClinGen CA384555457
- ClinVar RCV002041834
- ClinVar RCV002243470
- Pathogenic/Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; Kniest dysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type; Kniest dysplas)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)