L96H (p.Leu96His) variant of KCNJ3 (P48549)
L96H (p.Leu96His) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L96H (p.Leu96His) variant details
- p.Leu96His
- gnomAD 2-154699062-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available