L24L (p.Leu24Leu) variant of ERCC4 (DNA repair endonuclease XPF)
L24L (p.Leu24Leu) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L24L (p.Leu24Leu) variant details
- p.Leu24Leu
- rs1225226851
- gnomAD 16-13920235-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 13.40
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available