P82A (p.Pro82Ala) variant of TNNT2 (Troponin T, cardiac muscle)
P82A (p.Pro82Ala) 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 0.67 / 1. The record also includes population frequency data and published literature.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- rs1396260543
- ClinGen CA344206724
- ClinVar RCV003533554
- gnomAD rs1396260543
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)