N33C (p.Asn33Cys) variant of AQP2 (Aquaporin-2)
N33C (p.Asn33Cys) in AQP2 (Aquaporin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N33C (p.Asn33Cys) variant details
- p.Asn33Cys
- rs772201159
- gnomAD 12-49950918-TCTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 28.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available