I40M (p.Ile40Met) variant of TRDN (Triadin)
I40M (p.Ile40Met) 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 0.14 / 1. The record also includes population frequency data and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- rs1376161348
- ClinGen CA365569246
- ClinVar RCV003380025
- TOPMed rs1376161348
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.09
- CADD 17.60
- PolyPhen-2 0.31
- 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 9e-07)
- Structural context available