L144Q (p.Leu144Gln) variant of TNNI3 (Troponin I, cardiac muscle)
L144Q (p.Leu144Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L144Q (p.Leu144Gln) variant details
- p.Leu144Gln
- rs121917760
- ClinGen CA021648
- ClinVar RCV000013241
- UniProt VAR 016079
- Pathogenic
- Cardiomyopathy, familial restrictive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Cardiomyopathy, familial restrictive, 1)
- EBI: Pathogenic (in RCM1)
- UniProt: Pathogenic (in RCM1)
- Structural context available
- Cited in: Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (PMID 12531876)