T126M (p.Thr126Met) variant of AQP2 (Aquaporin-2)
T126M (p.Thr126Met) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T126M (p.Thr126Met) variant details
- p.Thr126Met
- rs104894330
- ClinGen CA127472
- ClinVar RCV000019411
- ClinVar RCV001851944
- Pathogenic/Likely pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.73
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nephrogenic diabetes insipidus; Diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. (PMID 9048343)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)