G909S (p.Gly909Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G909S (p.Gly909Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G909S (p.Gly909Ser) variant details
- p.Gly909Ser
- rs121912875
- ClinGen CA384543805
- ClinVar RCV003444081
- Likely 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: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Likely pathogenic (in SEMDSTWK)
- UniProt: Likely pathogenic (in SEMDSTWK)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)