V67I (p.Val67Ile) variant of AQP3 (Aquaporin-3)
V67I (p.Val67Ile) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- gnomAD rs1360176337
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.53
- CADD 24.00
- PolyPhen-2 0.65
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available