M155T (p.Met155Thr) variant of TNNI3 (Troponin I, cardiac muscle)
M155T (p.Met155Thr) 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 0.62 / 1. The record also includes published literature and structural context.
M155T (p.Met155Thr) variant details
- p.Met155Thr
- rs397516352
- ClinGen CA021714
- ClinVar RCV000036298
- Ensembl rs397516352
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.92
- MetaLR 0.76
- MetaSVM 0.63
- PolyPhen-2 0.35
- SIFT 0.00
- EVE 0.15
- 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)