H81Q (p.His81Gln) variant of AQP3 (Aquaporin-3)
H81Q (p.His81Gln) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
H81Q (p.His81Gln) variant details
- p.His81Gln
- TOPMed rs1826870647
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.92
- AlphaMissense 0.84
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.80
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available