L23Q (p.Leu23Gln) variant of KCNQ4 (P56696)
L23Q (p.Leu23Gln) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- gnomAD 1-40784161-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.31
- MetaLR 0.85
- MetaSVM 0.66
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available