S2F (p.Ser2Phe) variant of TNNT2 (Troponin T, cardiac muscle)
S2F (p.Ser2Phe) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs981844273
- ClinGen CA35432771
- ClinVar RCV001185605
- Ensembl rs981844273
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.66
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)