L17M (p.Leu17Met) variant of KCNJ11 (Q14654)
L17M (p.Leu17Met) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 11-17388043-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available