A18P (p.Ala18Pro) variant of KCNQ4 (P56696)
A18P (p.Ala18Pro) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- gnomAD 1-40784144-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available