P262L (p.Pro262Leu) variant of AQP2 (Aquaporin-2)
P262L (p.Pro262Leu) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P262L (p.Pro262Leu) variant details
- p.Pro262Leu
- rs104894339
- ClinGen CA127490
- NCI-TCGA Cosmic COSV5222
- ClinVar RCV000019422
- Pathogenic/Likely pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.32
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nephrogenic diabetes insipidus; Diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the REMAINING population (allele frequency 0.00013)
- 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)