C112F (p.Cys112Phe) variant of AVPR2 (Vasopressin V2 receptor)
C112F (p.Cys112Phe) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C112F (p.Cys112Phe) variant details
- p.Cys112Phe
- rs1057518723
- ClinGen CA16043704
- ClinVar RCV000414968
- Ensembl rs1057518723
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Likely pathogenic (in NDI1)
- UniProt: Likely pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)