Q55P (p.Gln55Pro) variant of TNNI3 (Troponin I, cardiac muscle)
Q55P (p.Gln55Pro) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q55P (p.Gln55Pro) variant details
- p.Gln55Pro
- rs775512887
- ClinGen CA050551
- ClinVar RCV000704620
- ClinVar RCV001185161
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.80
- MetaLR 0.85
- MetaSVM 0.87
- CADD 26.40
- PolyPhen-2 0.93
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)