L53M (p.Leu53Met) variant of AQP4 (Aquaporin-4)
L53M (p.Leu53Met) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L53M (p.Leu53Met) variant details
- p.Leu53Met
- TOPMed rs55839024
- gnomAD rs55839024
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.49
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available