E22K (p.Glu22Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E22K (p.Glu22Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs1660681373
- ClinGen CA344208003
- cosmic curated COSV52661
- ClinVar RCV004015701
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.12
- MetaLR 0.86
- MetaSVM 0.53
- SIFT 0.01
- MutPred 0.45
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)