V93L (p.Val93Leu) variant of KCNJ3 (P48549)
V93L (p.Val93Leu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V93L (p.Val93Leu) variant details
- p.Val93Leu
- gnomAD 2-154699052-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available