L9A (p.Leu9Ala) variant of KCNQ4 (P56696)
L9A (p.Leu9Ala) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L9A (p.Leu9Ala) variant details
- p.Leu9Ala
- gnomAD 1-40784115-CGCCTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available