T12R (p.Thr12Arg) variant of TRDN (Triadin)
T12R (p.Thr12Arg) 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 0.53 / 1. The record also includes structural context.
T12R (p.Thr12Arg) variant details
- p.Thr12Arg
- rs2114538250
- ClinGen CA365569419
- ClinVar RCV003296966
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.52
- MetaLR 0.38
- MetaSVM -0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available