S216P (p.Ser216Pro) variant of AQP2 (Aquaporin-2)
S216P (p.Ser216Pro) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S216P (p.Ser216Pro) variant details
- p.Ser216Pro
- rs104894329
- ClinGen CA127466
- ClinVar RCV000019407
- ClinVar RCV005406751
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.82
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Population evidence available
- Structural context available
- Cited in: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. (PMID 7524315)
- Cited in: Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular… (PMID 7537761)