L109R (p.Leu109Arg) variant of ERCC2 (P18074)
L109R (p.Leu109Arg) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L109R (p.Leu109Arg) variant details
- p.Leu109Arg
- rs2514043674
- ClinGen CA2695198222
- ClinVar RCV003460024
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available