A7A (p.Ala7Ala) variant of ERCC4 (DNA repair endonuclease XPF)
A7A (p.Ala7Ala) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs759774291
- gnomAD 16-13920186-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available