E12K (p.Glu12Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E12K (p.Glu12Lys) 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 Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- rs760247765
- ClinGen CA027657
- cosmic curated COSV52661
- ClinVar RCV001057780
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.11
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.30
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)