T31A (p.Thr31Ala) variant of TNNI3 (Troponin I, cardiac muscle)
T31A (p.Thr31Ala) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs1298916040
- ClinGen CA407442920
- ClinVar RCV001524401
- ClinVar RCV004804211
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.34
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.11
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)