H34Q (p.His34Gln) variant of TNNI3 (Troponin I, cardiac muscle)
H34Q (p.His34Gln) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
H34Q (p.His34Gln) variant details
- p.His34Gln
- TOPMed rs2085737900
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.41
- MetaLR 0.64
- MetaSVM -0.36
- CADD 9.96
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available