T5S (p.Thr5Ser) variant of TRDN (Triadin)
T5S (p.Thr5Ser) in TRDN (Triadin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- ExAC rs750046661
- TOPMed rs750046661
- gnomAD rs750046661
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.10
- CADD 25.60
- PolyPhen-2 0.84
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available