G357S (p.Gly357Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G357S (p.Gly357Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spondyloepiphyseal dysplasia congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G357S (p.Gly357Ser) variant details
- p.Gly357Ser
- rs1423486005
- ClinGen CA384555397
- ClinVar RCV001787278
- gnomAD rs1423486005
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)