Q43* (p.Gln43Ter) variant of AQP2 (Aquaporin-2)
Q43* (p.Gln43Ter) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- rs1481158831
- ClinGen CA384771830
- ClinVar RCV001939528
- ClinVar RCV002507699
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)