G558E (p.Gly558Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G558E (p.Gly558Glu) 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 Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G558E (p.Gly558Glu) variant details
- p.Gly558Glu
- rs2136567637
- ClinGen CA384551339
- ClinVar RCV002278844
- Ensembl rs2136567637
- Likely pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available