I40R (p.Ile40Arg) variant of TRDN (Triadin)
I40R (p.Ile40Arg) 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 0.44 / 1. The record also includes population frequency data and structural context.
I40R (p.Ile40Arg) variant details
- p.Ile40Arg
- ExAC rs760326107
- TOPMed rs760326107
- gnomAD rs760326107
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.30
- CADD 26.30
- PolyPhen-2 0.55
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available