L70S (p.Leu70Ser) variant of TRDN (Triadin)
L70S (p.Leu70Ser) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
L70S (p.Leu70Ser) variant details
- p.Leu70Ser
- rs2534609037
- ClinGen CA365569065
- ClinVar RCV002424181
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available