W46* (p.Trp46Ter) variant of CLDN10 (Claudin-10)
W46* (p.Trp46Ter) in CLDN10 (Claudin-10) 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 0.43 / 1. The record also includes population frequency data and structural context.
W46* (p.Trp46Ter) variant details
- p.Trp46Ter
- rs2501666796
- ClinGen CA388478713
- ClinVar RCV003319566
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available