L23P (p.Leu23Pro) variant of KCNQ4 (P56696)
L23P (p.Leu23Pro) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 1-40784161-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.34
- MetaLR 0.85
- MetaSVM 0.51
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available