T5I (p.Thr5Ile) variant of TRDN (Triadin)
T5I (p.Thr5Ile) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs750046661
- ClinGen CA365567979
- cosmic curated COSV62125
- ClinVar RCV004523882
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.20
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available