W33* (p.Trp33Ter) variant of C9ORF72 (Q96LT7)
W33* (p.Trp33Ter) in C9ORF72 (Q96LT7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W33* (p.Trp33Ter) variant details
- p.Trp33Ter
- gnomAD rs1271940652
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available