R27S (p.Arg27Ser) variant of AVPR2 (Vasopressin V2 receptor)
R27S (p.Arg27Ser) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- rs1221495795
- ClinGen CA415103337
- ClinVar RCV001165926
- TOPMed rs1221495795
- Uncertain significance
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 5.87
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)