S167L (p.Ser167Leu) variant of AVPR2 (Vasopressin V2 receptor)
S167L (p.Ser167Leu) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
S167L (p.Ser167Leu) variant details
- p.Ser167Leu
- rs1557100701
- ClinGen CA415106647
- ClinVar RCV001036212
- ClinVar RCV005629586
- Pathogenic/Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.92
- MetaLR 0.40
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked; not provided)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PMID 8037205)
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)