G70S (p.Gly70Ser) variant of AQP3 (Aquaporin-3)
G70S (p.Gly70Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- gnomAD rs1826877100
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.66
- CADD 26.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available