G75S (p.Gly75Ser) variant of AQP3 (Aquaporin-3)
G75S (p.Gly75Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G75S (p.Gly75Ser) variant details
- p.Gly75Ser
- ExAC rs765960239
- TOPMed rs765960239
- gnomAD rs765960239
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.49
- CADD 29.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available