L24S (p.Leu24Ser) variant of XRCC2 (DNA repair protein XRCC2)
L24S (p.Leu24Ser) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L24S (p.Leu24Ser) variant details
- p.Leu24Ser
- rs1590134315
- ClinGen CA370199501
- ClinVar RCV003305386
- ClinVar RCV003777120
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.41
- MetaLR 0.28
- MetaSVM -0.51
- CADD 25.70
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)