P19V (p.Pro19Val) variant of KCNQ4 (P56696)
P19V (p.Pro19Val) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P19V (p.Pro19Val) variant details
- p.Pro19Val
- gnomAD 1-40784147-C-CGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available