V77I (p.Val77Ile) variant of AQP3 (Aquaporin-3)
V77I (p.Val77Ile) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V77I (p.Val77Ile) variant details
- p.Val77Ile
- TOPMed rs1354430795
- gnomAD rs1354430795
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.32
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available