G414R (p.Gly414Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G414R (p.Gly414Arg) 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 record also includes published literature and structural context.
G414R (p.Gly414Arg) variant details
- p.Gly414Arg
- rs2540152190
- ClinGen CA384554222
- ClinVar RCV003444052
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Missense
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)