E3V (p.Glu3Val) variant of TRDN (Triadin)
E3V (p.Glu3Val) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- ExAC rs757975935
- gnomAD rs757975935
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.38
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available