P13L (p.Pro13Leu) variant of KCNQ4 (P56696)
P13L (p.Pro13Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- gnomAD 1-40784131-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.48
- MetaLR 0.93
- MetaSVM 0.86
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available