F120V (p.Phe120Val) variant of TNNT2 (Troponin T, cardiac muscle)
F120V (p.Phe120Val) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature.
F120V (p.Phe120Val) variant details
- p.Phe120Val
- rs121964858
- ClinGen CA10581127
- ClinVar RCV000223859
- UniProt VAR 019878
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular… (PMID 10525521)