M1I (p.Met1Ile) variant of AQP2 (Aquaporin-2)
M1I (p.Met1Ile) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1288385043
- ClinGen CA384771345
- ClinVar RCV001293732
- Pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- MetaLR 0.52
- MetaSVM 0.04
- PolyPhen-2 0.28
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)