E44* (p.Glu44Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E44* (p.Glu44Ter) in RECQL4 (ATP-dependent DNA helicase Q4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- gnomAD rs1451202168
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available