V47L (p.Val47Leu) variant of KCNJ3 (P48549)
V47L (p.Val47Leu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- gnomAD 2-154698914-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.90
- CADD 27.50
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available