Y26C (p.Tyr26Cys) variant of TNNI3 (Troponin I, cardiac muscle)
Y26C (p.Tyr26Cys) 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 0.77 / 1. The record also includes structural context.
Y26C (p.Tyr26Cys) variant details
- p.Tyr26Cys
- rs2147285958
- ClinGen CA407442995
- ClinVar RCV002010616
- Ensembl rs2147285958
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.80
- MetaLR 0.83
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available