Y110* (p.Tyr110Ter) variant of C9ORF72 (Q96LT7)
Y110* (p.Tyr110Ter) in C9ORF72 (Q96LT7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y110* (p.Tyr110Ter) variant details
- p.Tyr110Ter
- ExAC rs781421755
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available