V24M (p.Val24Met) variant of TRDN (Triadin)
V24M (p.Val24Met) 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 0.24 / 1. The record also includes population frequency data and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- rs2534610345
- ClinGen CA365569345
- ClinVar RCV003384972
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available