T125M (p.Thr125Met) variant of AQP2 (Aquaporin-2)
T125M (p.Thr125Met) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
T125M (p.Thr125Met) variant details
- p.Thr125Met
- rs104894333
- ClinGen CA127480
- NCI-TCGA Cosmic COSV5222
- ClinVar RCV000019415
- Pathogenic/Likely pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.62
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nephrogenic diabetes insipidus; Diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic… (PMID 12191971)
- Cited in: Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. (PMID 9550615)