L58F (p.Leu58Phe) variant of XRCC2 (DNA repair protein XRCC2)
L58F (p.Leu58Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- rs1030204779
- ClinGen CA370199268
- ClinVar RCV004521354
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.16
- MetaLR 0.24
- MetaSVM -0.62
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)