R93G (p.Arg93Gly) variant of TRDN (Triadin)
R93G (p.Arg93Gly) in TRDN (Triadin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R93G (p.Arg93Gly) variant details
- p.Arg93Gly
- 1000Genomes rs370788759
- ESP rs370788759
- ExAC rs370788759
- TOPMed rs370788759
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available