A147T (p.Ala147Thr) variant of AQP2 (Aquaporin-2)
A147T (p.Ala147Thr) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A147T (p.Ala147Thr) variant details
- p.Ala147Thr
- rs104894334
- ClinGen CA127470
- ClinVar RCV000019410
- ClinVar RCV000029343
- Pathogenic/Likely pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.84
- CADD 27.60
- PolyPhen-2 0.74
- 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 Non-Finnish European population (allele frequency 0.00015)
- 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)