W30* (p.Trp30Ter) variant of CLDN14 (Claudin-14)
W30* (p.Trp30Ter) in CLDN14 (Claudin-14) 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 0.85 / 1. The record also includes population frequency data and structural context.
W30* (p.Trp30Ter) variant details
- p.Trp30Ter
- rs1273842424
- ClinGen CA409884708
- ClinVar RCV001375278
- ClinVar RCV002550952
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available