V36E (p.Val36Glu) variant of AQP3 (Aquaporin-3)
V36E (p.Val36Glu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V36E (p.Val36Glu) variant details
- p.Val36Glu
- ExAC rs758362320
- TOPMed rs758362320
- gnomAD rs758362320
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.89
- CADD 26.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available