E184K (p.Glu184Lys) variant of TNNI3 (Troponin I, cardiac muscle)
E184K (p.Glu184Lys) in TNNI3 (Troponin I, 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 0.57 / 1. The record also includes published literature and structural context.
E184K (p.Glu184Lys) variant details
- p.Glu184Lys
- rs397516356
- ClinGen CA021885
- ClinVar RCV000036305
- Ensembl rs397516356
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.32
- MetaLR 0.76
- MetaSVM 0.44
- PolyPhen-2 0.00
- SIFT 0.07
- EVE 0.22
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)