L51F (p.Leu51Phe) variant of TRDN (Triadin)
L51F (p.Leu51Phe) 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.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- gnomAD rs1281065223
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.27
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available