S80Y (p.Ser80Tyr) variant of TRDN (Triadin)
S80Y (p.Ser80Tyr) in TRDN (Triadin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S80Y (p.Ser80Tyr) variant details
- p.Ser80Tyr
- 1000Genomes rs181287533
- ExAC rs181287533
- TOPMed rs181287533
- gnomAD rs181287533
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.32
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 7e-05)
- Structural context available