K207E (p.Lys207Glu) variant of TNNT2 (Troponin T, cardiac muscle)
K207E (p.Lys207Glu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature.
K207E (p.Lys207Glu) variant details
- p.Lys207Glu
- rs1658737079
- ClinGen CA344203992
- ClinVar RCV001207036
- ClinVar RCV005286333
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.71
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.43
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)