E3Q (p.Glu3Gln) variant of ETFB (P38117)
E3Q (p.Glu3Gln) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- ESP rs370961463
- ExAC rs370961463
- TOPMed rs370961463
- gnomAD rs370961463
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.24
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available