M272I (p.Met272Ile) variant of AVPR2 (Vasopressin V2 receptor)
M272I (p.Met272Ile) 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 0.44 / 1. The record also includes published literature.
M272I (p.Met272Ile) variant details
- p.Met272Ile
- rs1603282342
- ClinGen CA415109453
- ClinVar RCV000990993
- Ensembl rs1603282342
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.96
- MetaLR 0.31
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.40
- 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)