G909C (p.Gly909Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G909C (p.Gly909Cys) 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 Spondyloepimetaphyseal dysplasia, Strudwick type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G909C (p.Gly909Cys) variant details
- p.Gly909Cys
- rs121912875
- ClinGen CA250678
- ClinVar RCV002509163
- UniProt VAR 001753
- Pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Pathogenic (in SEMDSTWK)
- UniProt: Pathogenic (in SEMDSTWK)
- Structural context available
- Cited in: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (PMID 7550321)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)