D132H (p.Asp132His) variant of AQP3 (Aquaporin-3)
D132H (p.Asp132His) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D132H (p.Asp132His) variant details
- p.Asp132His
- 1000Genomes rs2231233
- ESP rs2231233
- ExAC rs2231233
- TOPMed rs2231233
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.08
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available