D72Y (p.Asp72Tyr) variant of TRDN (Triadin)
D72Y (p.Asp72Tyr) 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 0.67 / 1. The record also includes structural context.
D72Y (p.Asp72Tyr) variant details
- p.Asp72Tyr
- rs919863113
- ClinGen CA147302738
- ClinVar RCV002432447
- Ensembl rs919863113
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.94
- MetaLR 0.61
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available