F120I (p.Phe120Ile) variant of TNNT2 (Troponin T, cardiac muscle)
F120I (p.Phe120Ile) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and published literature.
F120I (p.Phe120Ile) variant details
- p.Phe120Ile
- rs121964858
- ClinGen CA004383
- ClinVar RCV000013223
- ClinVar RCV000223682
- Pathogenic
- not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.03
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. (PMID 7898523)
- Cited in: A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. (PMID 9482583)