G525S (p.Gly525Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G525S (p.Gly525Ser) 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; Spondyloperipheral dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G525S (p.Gly525Ser) variant details
- p.Gly525Ser
- rs2136568585
- ClinGen CA384551975
- ClinVar RCV002222289
- Ensembl rs2136568585
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type; Spondyloperiph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)