G456S (p.Gly456Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G456S (p.Gly456Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Spondyloepimetaphyseal dysplasia, Strudwick type; Spondyloperipheral dysplasia. The record also includes structural context.
G456S (p.Gly456Ser) variant details
- p.Gly456Ser
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10047
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; Spondyloperipheral dysplasia
- Missense
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type; Spondyloperiph)
- UniProt: Likely pathogenic
- Structural context available