G55S (p.Gly55Ser) variant of AQP3 (Aquaporin-3)
G55S (p.Gly55Ser) 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.
G55S (p.Gly55Ser) variant details
- p.Gly55Ser
- ExAC rs750756921
- gnomAD rs750756921
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.11
- AlphaMissense 0.96
- MetaLR 0.15
- MetaSVM -0.78
- CADD 16.60
- PolyPhen-2 0.99
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available