L9I (p.Leu9Ile) variant of KCNQ4 (P56696)
L9I (p.Leu9Ile) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- gnomAD 1-40784118-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.36
- MetaLR 0.87
- MetaSVM 0.57
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available