E119D (p.Glu119Asp) variant of TRDN (Triadin)
E119D (p.Glu119Asp) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E119D (p.Glu119Asp) variant details
- p.Glu119Asp
- ExAC rs771006430
- gnomAD rs771006430
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.12
- CADD 1.05
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available