A11A (p.Ala11Ala) variant of ERCC4 (DNA repair endonuclease XPF)
A11A (p.Ala11Ala) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- rs3136042
- gnomAD 16-13920198-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.52
- Most common in the HGDP:BIAKA population (allele frequency 0.091)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)