Q5Q (p.Gln5Gln) variant of ERCC4 (DNA repair endonuclease XPF)
Q5Q (p.Gln5Gln) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- rs748509102
- gnomAD 16-13920180-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 4.59
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available