R3L (p.Arg3Leu) variant of AQP3 (Aquaporin-3)
R3L (p.Arg3Leu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- ExAC rs752949682
- TOPMed rs752949682
- gnomAD rs752949682
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.46
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available