L11Q (p.Leu11Gln) variant of KCNQ4 (P56696)
L11Q (p.Leu11Gln) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- gnomAD 1-40784125-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.51
- MetaLR 0.94
- MetaSVM 0.83
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available