P15L (p.Pro15Leu) variant of AQP4 (Aquaporin-4)
P15L (p.Pro15Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- 1000Genomes rs544987084
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- CADD 21.00
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available