L43R (p.Leu43Arg) variant of AQP4 (Aquaporin-4)
L43R (p.Leu43Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L43R (p.Leu43Arg) variant details
- p.Leu43Arg
- TOPMed rs1316232427
- gnomAD rs1316232427
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 27.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available