L28I (p.Leu28Ile) variant of AQP2 (Aquaporin-2)
L28I (p.Leu28Ile) 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 and structural context.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD rs1333138865
- Uncertain significance
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.33
- CADD 19.40
- PolyPhen-2 0.41
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance (in NDI2)
- UniProt: Uncertain significance (in NDI2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available