L22P (p.Leu22Pro) variant of ERCC4 (DNA repair endonuclease XPF)
L22P (p.Leu22Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- TOPMed rs1318270871
- gnomAD rs1318270871
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.38
- CADD 25.30
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available