Q48P (p.Gln48Pro) variant of TNNI3 (Troponin I, cardiac muscle)
Q48P (p.Gln48Pro) 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; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q48P (p.Gln48Pro) variant details
- p.Gln48Pro
- rs200720341
- ClinGen CA050324
- ClinVar RCV000253227
- ClinVar RCV000656735
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.75
- MetaLR 0.77
- MetaSVM 0.56
- CADD 24.60
- PolyPhen-2 0.80
- SIFT 0.39
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)