V24I (p.Val24Ile) variant of AQP2 (Aquaporin-2)
V24I (p.Val24Ile) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- rs200706192
- ClinGen CA6559139
- ClinVar RCV000375579
- ClinVar RCV000933479
- Conflicting interpretations
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.55
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Diabetes insipidus, nephrogenic, autosomal)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)