A37V (p.Ala37Val) variant of AQP2 (Aquaporin-2)
A37V (p.Ala37Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- TOPMed rs1947324078
- gnomAD rs1947324078
- Uncertain significance
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (Nephrogenic diabetes insipidus)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available