R5C (p.Arg5Cys) variant of AQP2 (Aquaporin-2)
R5C (p.Arg5Cys) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs772585705
- ClinGen CA6559124
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV002598813
- Uncertain significance
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)