Q59* (p.Gln59Ter) variant of TNNI3 (Troponin I, cardiac muscle)
Q59* (p.Gln59Ter) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs2085729446
- ClinGen CA407441981
- ClinVar RCV003231888
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.50
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available