V59L (p.Val59Leu) variant of AQP7 (Aquaporin-7)
V59L (p.Val59Leu) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- rs4008659
- cosmic curated COSV53022
- UniProt VAR 067254
- 1000Genomes rs4008659
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Cited in: Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. (PMID 11952783)