W17* (p.Trp17Ter) variant of KCNQ5 (Q9NR82)
W17* (p.Trp17Ter) in KCNQ5 (Q9NR82) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- rs1265096046
- ClinGen CA364824049
- ClinVar RCV003571282
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available