A20V (p.Ala20Val) variant of TNNT2 (Troponin T, cardiac muscle)
A20V (p.Ala20Val) 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 0.79 / 1. The record also includes population frequency data.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- 1000Genomes rs535282031
- ExAC rs535282031
- TOPMed rs535282031
- gnomAD rs535282031
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)