G1176D (p.Gly1176Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G1176D (p.Gly1176Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Spondyloepiphyseal dysplasia congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G1176D (p.Gly1176Asp) variant details
- p.Gly1176Asp
- rs1592197752
- ClinGen CA384537387
- ClinVar RCV000994904
- Ensembl rs1592197752
- Pathogenic/Likely pathogenic
- not provided; Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (not provided; Spondyloepiphyseal dysplasia congenita)
- EBI: Likely pathogenic (in SEDC)
- UniProt: Likely pathogenic (in SEDC)
- Structural context available