S188F (p.Ser188Phe) variant of AQP2 (Aquaporin-2)
S188F (p.Ser188Phe) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
S188F (p.Ser188Phe) variant details
- p.Ser188Phe
- rs1131690792
- ClinGen CA384774629
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV000494688
- Likely pathogenic
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)