M272V (p.Met272Val) variant of AVPR2 (Vasopressin V2 receptor)
M272V (p.Met272Val) 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 0.53 / 1. The record also includes published literature.
M272V (p.Met272Val) variant details
- p.Met272Val
- rs2064966794
- ClinGen CA415109441
- ClinVar RCV001290395
- Ensembl rs2064966794
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.73
- MetaLR 0.33
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Likely pathogenic (in NDI1)
- UniProt: Likely pathogenic (in NDI1)
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)