S115L (p.Ser115Leu) variant of TRDN (Triadin)
S115L (p.Ser115Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S115L (p.Ser115Leu) variant details
- p.Ser115Leu
- rs2534485147
- ClinGen CA365568743
- ClinVar RCV002457185
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available