Q21* (p.Gln21Ter) variant of ERCC4 (DNA repair endonuclease XPF)
Q21* (p.Gln21Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- gnomAD 16-13920226-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 41.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available