T7S (p.Thr7Ser) variant of AVPR2 (Vasopressin V2 receptor)
T7S (p.Thr7Ser) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Diabetes insipidus, nephrogenic, X-linked; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T7S (p.Thr7Ser) variant details
- p.Thr7Ser
- rs5196
- ClinGen CA10554909
- ClinVar RCV000270798
- ClinVar RCV000972199
- Benign
- Diabetes insipidus, nephrogenic, X-linked; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0628
- CADD 1.10
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Benign (Diabetes insipidus, nephrogenic, X-linked; not provided)
- EBI: Benign (in dbSNP:rs5196)
- UniProt: Benign (in dbSNP:rs5196)
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)