L27L (p.Leu27Leu) variant of ERCC4 (DNA repair endonuclease XPF)
L27L (p.Leu27Leu) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- rs1389032539
- gnomAD 16-13920246-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.53
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available