P82R (p.Pro82Arg) variant of TNNT2 (Troponin T, cardiac muscle)
P82R (p.Pro82Arg) 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 0.78 / 1. The record also includes population frequency data.
P82R (p.Pro82Arg) variant details
- p.Pro82Arg
- gnomAD rs386352374
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.41
- MetaLR 0.99
- MetaSVM 0.92
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)