L26I (p.Leu26Ile) variant of KCNQ4 (P56696)
L26I (p.Leu26Ile) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L26I (p.Leu26Ile) variant details
- p.Leu26Ile
- gnomAD 1-40784169-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.33
- MetaLR 0.88
- MetaSVM 0.44
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available