E47Q (p.Glu47Gln) variant of ETFB (P38117)
E47Q (p.Glu47Gln) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- gnomAD rs1340010576
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available