E3K (p.Glu3Lys) variant of AQP2 (Aquaporin-2)
E3K (p.Glu3Lys) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- rs779279677
- NCI-TCGA Cosmic COSV5222
- ExAC rs779279677
- gnomAD rs779279677
- Uncertain significance
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.79
- CADD 29.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available