L9P (p.Leu9Pro) variant of KCNQ4 (P56696)
L9P (p.Leu9Pro) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD 1-40784113-GCCGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available