G774D (p.Gly774Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G774D (p.Gly774Asp) 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 not provided; Autosomal dominant COL2A1-related disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G774D (p.Gly774Asp) variant details
- p.Gly774Asp
- rs2136546742
- ClinGen CA384545733
- ClinVar RCV002278849
- Ensembl rs2136546742
- Likely pathogenic
- not provided; Autosomal dominant COL2A1-related disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (not provided; Autosomal dominant COL2A1-related disorders)
- EBI: Likely pathogenic (in SEDC and hypochondrogenesis)
- UniProt: Likely pathogenic (in SEDC and hypochondrogenesis)
- Structural context available