Y29D (p.Tyr29Asp) variant of TNNI3 (Troponin I, cardiac muscle)
Y29D (p.Tyr29Asp) 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 not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
Y29D (p.Tyr29Asp) variant details
- p.Tyr29Asp
- rs727503510
- ClinGen CA022127
- ClinVar RCV000152092
- ClinVar RCV003998232
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.75
- MetaLR 0.72
- MetaSVM 0.52
- PolyPhen-2 0.90
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available