Q43D (p.Gln43Asp) variant of AQP2 (Aquaporin-2)
Q43D (p.Gln43Asp) in AQP2 (Aquaporin-2) is a protein-truncating change. 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.
Q43D (p.Gln43Asp) variant details
- p.Gln43Asp
- rs1337669269
- gnomAD 12-49950955-TAC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 25.90
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available