W195* (p.Trp195Ter) variant of SCN5A (Q14524)
W195* (p.Trp195Ter) in SCN5A (Q14524) 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 0.88 / 1. The record also includes population frequency data and structural context.
W195* (p.Trp195Ter) variant details
- p.Trp195Ter
- rs1553605674
- cosmic curated COSV10465
- Ensembl rs1553605674
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available