R11K (p.Arg11Lys) variant of AQP2 (Aquaporin-2)
R11K (p.Arg11Lys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R11K (p.Arg11Lys) variant details
- p.Arg11Lys
- rs148085137
- ClinGen CA6559129
- ClinVar RCV001111885
- 1000Genomes rs148085137
- Uncertain significance
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.48
- CADD 22.20
- PolyPhen-2 0.13
- SIFT 0.26
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0098)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)