F80L (p.Phe80Leu) variant of TNNT2 (Troponin T, cardiac muscle)
F80L (p.Phe80Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
F80L (p.Phe80Leu) variant details
- p.Phe80Leu
- rs886039053
- ClinGen CA10587418
- ClinVar RCV000249796
- ClinVar RCV001582899
- Uncertain significance
- not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 23.00
- PolyPhen-2 0.89
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)