P77T (p.Pro77Thr) variant of TNNT2 (Troponin T, cardiac muscle)
P77T (p.Pro77Thr) 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 0.77 / 1. The record also includes population frequency data and published literature.
P77T (p.Pro77Thr) variant details
- p.Pro77Thr
- rs774702133
- ClinGen CA088945
- ClinVar RCV003533556
- ExAC rs774702133
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)