F97L (p.Phe97Leu) variant of TNNT2 (Troponin T, cardiac muscle)
F97L (p.Phe97Leu) 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 Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature.
F97L (p.Phe97Leu) variant details
- p.Phe97Leu
- rs730881098
- ClinVar RCV005219688
- Ensembl rs730881098
- Pathogenic
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.49
- ClinVar: Pathogenic (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)