E13D (p.Glu13Asp) variant of AQP3 (Aquaporin-3)
E13D (p.Glu13Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- ESP rs368353913
- TOPMed rs368353913
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.15
- AlphaMissense 0.10
- MetaLR 0.36
- MetaSVM -0.54
- CADD 20.90
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available