W10* (p.Trp10Ter) variant of AQP4 (Aquaporin-4)
W10* (p.Trp10Ter) in AQP4 (Aquaporin-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- TOPMed rs1206989233
- gnomAD rs1206989233
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 39.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available