L9F (p.Leu9Phe) variant of KCNQ4 (P56696)
L9F (p.Leu9Phe) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 1-40784118-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.40
- MetaLR 0.85
- MetaSVM 0.66
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available