R9W (p.Arg9Trp) variant of AQP4 (Aquaporin-4)
R9W (p.Arg9Trp) in AQP4 (Aquaporin-4) 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 0.35 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs772226682
- NCI-TCGA Cosmic COSV1044
- ExAC rs772226682
- TOPMed rs772226682
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.25
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available