Q5* (p.Gln5Ter) variant of ERCC4 (DNA repair endonuclease XPF)
Q5* (p.Gln5Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- Ensembl rs2141936859
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available