E3* (p.Glu3Ter) variant of ETFB (P38117)
E3* (p.Glu3Ter) in ETFB (P38117) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- ESP rs370961463
- ExAC rs370961463
- TOPMed rs370961463
- gnomAD rs370961463
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available