K36Q (p.Lys36Gln) variant of TNNI3 (Troponin I, cardiac muscle)
K36Q (p.Lys36Gln) 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 Dilated cardiomyopathy 1FF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
K36Q (p.Lys36Gln) variant details
- p.Lys36Gln
- rs267607130
- ClinGen CA021239
- ClinVar RCV000013243
- UniProt VAR 063548
- Pathogenic
- Dilated cardiomyopathy 1FF
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.18
- MetaLR 0.78
- MetaSVM 0.59
- PolyPhen-2 0.85
- SIFT 0.12
- MutPred 0.46
- ClinVar: Pathogenic (Dilated cardiomyopathy 1FF)
- EBI: Pathogenic (in CMD1FF)
- UniProt: Pathogenic (in CMD1FF)
- Structural context available
- Cited in: Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant… (PMID 19590045)
- Cited in: Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and… (PMID 29093449)