G984R (p.Gly984Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G984R (p.Gly984Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G984R (p.Gly984Arg) variant details
- p.Gly984Arg
- rs2136526413
- ClinGen CA384541312
- ClinVar RCV002278693
- ClinVar RCV005096007
- Likely pathogenic
- Connective tissue disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Connective tissue disorder; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available