F44L (p.Phe44Leu) variant of TRDN (Triadin)
F44L (p.Phe44Leu) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- gnomAD rs1255513715
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.68
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available