L16P (p.Leu16Pro) variant of ERCC4 (DNA repair endonuclease XPF)
L16P (p.Leu16Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD rs1301287370
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available