W4* (p.Trp4Ter) variant of CLCN5 (P51795)
W4* (p.Trp4Ter) in CLCN5 (P51795) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- NCI-TCGA Cosmic COSV6580
- cosmic curated COSV65800
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available