P77S (p.Pro77Ser) variant of TNNT2 (Troponin T, cardiac muscle)
P77S (p.Pro77Ser) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
P77S (p.Pro77Ser) variant details
- p.Pro77Ser
- ExAC rs774702133
- gnomAD rs774702133
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 26.30
- PolyPhen-2 0.83
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)