L58I (p.Leu58Ile) variant of XRCC2 (DNA repair protein XRCC2)
L58I (p.Leu58Ile) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L58I (p.Leu58Ile) variant details
- p.Leu58Ile
- rs1030204779
- ClinGen CA169486958
- ClinVar RCV002407403
- ClinVar RCV005097711
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- AlphaMissense 0.16
- MetaLR 0.24
- MetaSVM -0.62
- CADD 24.10
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)