A82S (p.Ala82Ser) variant of TRDN (Triadin)
A82S (p.Ala82Ser) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of EBV-positive nodal T- and NK-cell lymphoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A82S (p.Ala82Ser) variant details
- p.Ala82Ser
- rs2534486118
- ClinVar RCV004558021
- Likely benign
- EBV-positive nodal T- and NK-cell lymphoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.07
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (EBV-positive nodal T- and NK-cell lymphoma)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available