P6A (p.Pro6Ala) variant of KCNQ4 (P56696)
P6A (p.Pro6Ala) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- gnomAD 1-40784103-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available