F120L (p.Phe120Leu) variant of TNNT2 (Troponin T, cardiac muscle)
F120L (p.Phe120Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and published literature.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- rs727504331
- ClinGen CA004389
- ClinVar RCV000159288
- ClinVar RCV000211744
- Likely pathogenic
- not provided; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)