G891S (p.Gly891Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G891S (p.Gly891Ser) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G891S (p.Gly891Ser) variant details
- p.Gly891Ser
- rs121912879
- ClinGen CA384544184
- ClinVar RCV001787263
- Ensembl rs121912879
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic (in ACG2 and SEDC)
- UniProt: Pathogenic (in ACG2 and SEDC)
- Population evidence available
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)