V24E (p.Val24Glu) variant of KCNQ4 (P56696)
V24E (p.Val24Glu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V24E (p.Val24Glu) variant details
- p.Val24Glu
- gnomAD 1-40784164-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.49
- MetaLR 0.87
- MetaSVM 0.61
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available