S116F (p.Ser116Phe) variant of TRDN (Triadin)
S116F (p.Ser116Phe) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S116F (p.Ser116Phe) variant details
- p.Ser116Phe
- TOPMed rs1781227703
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.29
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available