K178E (p.Lys178Glu) variant of TNNI3 (Troponin I, cardiac muscle)
K178E (p.Lys178Glu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
K178E (p.Lys178Glu) variant details
- p.Lys178Glu
- rs104894730
- ClinGen CA021835
- ClinVar RCV000013238
- ClinVar RCV001331172
- Pathogenic
- Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.94
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyop)
- EBI: Pathogenic (in RCM1)
- UniProt: Pathogenic (in RCM1)
- Structural context available
- Cited in: Troponin I: inhibitor or facilitator. (PMID 10098965)
- Cited in: Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (PMID 12531876)