L32* (p.Leu32Ter) variant of ERCC4 (DNA repair endonuclease XPF)
L32* (p.Leu32Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L32* (p.Leu32Ter) variant details
- p.Leu32Ter
- gnomAD 16-13920255-CG-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 32.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available