D3Y (p.Asp3Tyr) variant of TNNI3 (Troponin I, cardiac muscle)
D3Y (p.Asp3Tyr) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- rs2085744165
- ClinGen CA407443526
- ClinVar RCV001219800
- Ensembl rs2085744165
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.16
- MetaLR 0.89
- MetaSVM 0.40
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available