T42R (p.Thr42Arg) variant of TRDN (Triadin)
T42R (p.Thr42Arg) 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 0.50 / 1. The record also includes population frequency data and structural context.
T42R (p.Thr42Arg) variant details
- p.Thr42Arg
- ESP rs371627659
- ExAC rs371627659
- TOPMed rs371627659
- gnomAD rs371627659
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.29
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available