A74S (p.Ala74Ser) variant of AQP3 (Aquaporin-3)
A74S (p.Ala74Ser) in AQP3 (Aquaporin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- TOPMed rs1385987539
- gnomAD rs1385987539
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- CADD 17.50
- PolyPhen-2 0.05
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available