L18R (p.Leu18Arg) variant of AQP2 (Aquaporin-2)
L18R (p.Leu18Arg) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- TOPMed rs1592814548
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.89
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available