E43D (p.Glu43Asp) variant of ETFB (P38117)
E43D (p.Glu43Asp) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- TOPMed rs1986014874
- gnomAD rs1986014874
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.67
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available