D30D (p.Asp30Asp) variant of ERCC4 (DNA repair endonuclease XPF)
D30D (p.Asp30Asp) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D30D (p.Asp30Asp) variant details
- p.Asp30Asp
- rs1304744260
- gnomAD 16-13920255-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available