R12C (p.Arg12Cys) variant of AQP7 (Aquaporin-7)
R12C (p.Arg12Cys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs139297434
- cosmic curated COSV53015
- UniProt VAR 067253
- 1000Genomes rs139297434
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.19
- CADD 8.66
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Cited in: Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. (PMID 11952783)