V46D (p.Val46Asp) variant of AQP7 (Aquaporin-7)
V46D (p.Val46Asp) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V46D (p.Val46Asp) variant details
- p.Val46Asp
- gnomAD rs1825740598
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.76
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available