D18E (p.Asp18Glu) variant of TRDN (Triadin)
D18E (p.Asp18Glu) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- Ensembl rs1782555596
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.19
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available