L22M (p.Leu22Met) variant of ERCC4 (DNA repair endonuclease XPF)
L22M (p.Leu22Met) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 16-13920229-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available