L15R (p.Leu15Arg) variant of ERCC4 (DNA repair endonuclease XPF)
L15R (p.Leu15Arg) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- gnomAD rs1455284562
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available