A31T (p.Ala31Thr) variant of AQP2 (Aquaporin-2)
A31T (p.Ala31Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Nephrogenic diabetes insipidus. The record also includes structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- Ensembl rs1947323866
- Uncertain significance
- Nephrogenic diabetes insipidus
- Missense
- ClinVar: Uncertain significance (Nephrogenic diabetes insipidus)
- UniProt: Uncertain significance
- Structural context available