L55P (p.Leu55Pro) variant of ERCC2 (P18074)
L55P (p.Leu55Pro) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs587778274
- ClinGen CA158800
- ClinVar RCV000120783
- ClinVar RCV002514632
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.70
- CADD 30.00
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available