Q34K (p.Gln34Lys) variant of TNNT2 (Troponin T, cardiac muscle)
Q34K (p.Gln34Lys) 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 Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- rs1350800220
- ClinGen CA344207399
- ClinVar RCV000698096
- ClinVar RCV001183320
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 19.30
- PolyPhen-2 0.13
- SIFT 0.47
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyo)
- 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)