E19E (p.Glu19Glu) variant of ERCC4 (DNA repair endonuclease XPF)
E19E (p.Glu19Glu) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- gnomAD 16-13920222-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available