L22V (p.Leu22Val) variant of AQP2 (Aquaporin-2)
L22V (p.Leu22Val) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- rs104894336
- ClinGen CA127482
- ClinVar RCV000019416
- ClinVar RCV006461183
- Uncertain significance
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.49
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; Diabetes insipidus, nephrogenic, autosomal)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with… (PMID 9302264)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)