Q36* (p.Gln36Ter) variant of AQP2 (Aquaporin-2)
Q36* (p.Gln36Ter) in AQP2 (Aquaporin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- rs1947324005
- ClinGen CA384771758
- ClinVar RCV001900674
- TOPMed rs1947324005
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available