S10F (p.Ser10Phe) variant of XRCC2 (DNA repair protein XRCC2)
S10F (p.Ser10Phe) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- rs2098040936
- ClinGen CA370199587
- ClinVar RCV001213679
- ClinVar RCV003353212
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.63
- CADD 25.80
- PolyPhen-2 0.41
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)