R9W (p.Arg9Trp) variant of AQP7 (Aquaporin-7)
R9W (p.Arg9Trp) in AQP7 (Aquaporin-7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs143724569
- 1000Genomes rs143724569
- ESP rs143724569
- ExAC rs143724569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.29
- CADD 17.10
- PolyPhen-2 0.17
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available