D54E (p.Asp54Glu) variant of ETFDH (Q16134)
D54E (p.Asp54Glu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- TOPMed rs1773829152
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.73
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.15
- Population evidence available
- Structural context available