F120L (p.Phe120Leu) variant of AQP3 (Aquaporin-3)
F120L (p.Phe120Leu) in AQP3 (Aquaporin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- NCI-TCGA TCGA novel
- TOPMed rs925234297
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.21
- AlphaMissense 0.81
- MetaLR 0.06
- MetaSVM -1.16
- CADD 24.10
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available