Q51* (p.Gln51Ter) variant of C9ORF72 (Q96LT7)
Q51* (p.Gln51Ter) 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.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- gnomAD rs1169929002
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available