V24L (p.Val24Leu) variant of KCNQ4 (P56696)
V24L (p.Val24Leu) 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 and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- 1000Genomes rs770609353
- ExAC rs770609353
- TOPMed rs770609353
- gnomAD rs770609353
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.42
- MetaLR 0.83
- MetaSVM 0.51
- CADD 19.70
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available