A190T (p.Ala190Thr) variant of AQP2 (Aquaporin-2)
A190T (p.Ala190Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A190T (p.Ala190Thr) variant details
- p.Ala190Thr
- rs104894341
- ClinGen CA127492
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV000019423
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.60
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane… (PMID 15509592)
- Cited in: Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region… (PMID 7512890)