L106V (p.Leu106Val) variant of AQP3 (Aquaporin-3)
L106V (p.Leu106Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L106V (p.Leu106Val) variant details
- p.Leu106Val
- ExAC rs767135708
- TOPMed rs767135708
- gnomAD rs767135708
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.41
- AlphaMissense 0.13
- MetaLR 0.29
- MetaSVM -0.70
- CADD 5.90
- PolyPhen-2 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available