N185K (p.Asn185Lys) variant of TNNI3 (Troponin I, cardiac muscle)
N185K (p.Asn185Lys) 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 0.35 / 1. The record also includes published literature and structural context.
N185K (p.Asn185Lys) variant details
- p.Asn185Lys
- rs267607129
- ClinGen CA021902
- ClinVar RCV000013244
- UniProt VAR 063549
- Pathogenic
- Dilated cardiomyopathy 1FF
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.31
- MetaLR 0.31
- MetaSVM -0.45
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.04
- 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: Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. (PMID 21846512)