G12E (p.Gly12Glu) variant of AVPR2 (Vasopressin V2 receptor)
G12E (p.Gly12Glu) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs2071126
- ClinGen CA10554938
- cosmic curated COSV61685
- ClinVar RCV000247065
- Benign
- not specified; not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 8.04
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Benign (not specified; not provided; Diabetes insipidus, nephrogenic, X-)
- EBI: Benign (in dbSNP:rs2071126)
- UniProt: Benign (in dbSNP:rs2071126)
- Population evidence available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)