L11M (p.Leu11Met) variant of KCNQ4 (P56696)
L11M (p.Leu11Met) 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.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 1-40784124-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.36
- MetaLR 0.94
- MetaSVM 0.87
- CADD 24.30
- PolyPhen-2 0.86
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available