I4L (p.Ile4Leu) variant of TNNT2 (Troponin T, cardiac muscle)
I4L (p.Ile4Leu) 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 Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
I4L (p.Ile4Leu) variant details
- p.Ile4Leu
- rs139705141
- ClinGen CA026513
- ClinVar RCV000523110
- ClinVar RCV000692553
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- CADD 4.22
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)