G798D (p.Gly798Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G798D (p.Gly798Asp) 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 not provided; Platyspondylic dysplasia, Torrance type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G798D (p.Gly798Asp) variant details
- p.Gly798Asp
- ExAC rs753047404
- Likely pathogenic
- not provided; Platyspondylic dysplasia, Torrance type
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Platyspondylic dysplasia, Torrance type)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available