L16L (p.Leu16Leu) variant of ERCC4 (DNA repair endonuclease XPF)
L16L (p.Leu16Leu) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs1364867115
- gnomAD 16-13920213-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 14.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available