A58G (p.Ala58Gly) variant of AQP2 (Aquaporin-2)
A58G (p.Ala58Gly) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A58G (p.Ala58Gly) variant details
- p.Ala58Gly
- ExAC rs575346865
- TOPMed rs575346865
- gnomAD rs575346865
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.39
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available