P25T (p.Pro25Thr) variant of TRDN (Triadin)
P25T (p.Pro25Thr) in TRDN (Triadin) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- TOPMed rs1007862871
- gnomAD rs1007862871
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.26
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available