E9* (p.Glu9Ter) variant of KCNQ5 (Q9NR82)
E9* (p.Glu9Ter) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- gnomAD 6-72622214-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available