Y29C (p.Tyr29Cys) variant of TNNI3 (Troponin I, cardiac muscle)
Y29C (p.Tyr29Cys) 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 0.74 / 1. The record also includes structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- rs2085738286
- ClinGen CA407442943
- ClinVar RCV001344454
- Ensembl rs2085738286
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.49
- MetaLR 0.83
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available