A130V (p.Ala130Val) variant of AQP2 (Aquaporin-2)
A130V (p.Ala130Val) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- ExAC rs776661183
- gnomAD rs776661183
- Likely pathogenic
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.93
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available