D18N (p.Asp18Asn) variant of TRDN (Triadin)
D18N (p.Asp18Asn) 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 0.55 / 1. The record also includes structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs372554839
- ClinGen CA365569388
- ClinVar RCV003296968
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.85
- MetaLR 0.47
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available