L15P (p.Leu15Pro) variant of XRCC2 (DNA repair protein XRCC2)
L15P (p.Leu15Pro) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs2485896936
- ClinGen CA370199550
- ClinVar RCV002328695
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.54
- MetaLR 0.40
- MetaSVM -0.21
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)