S22N (p.Ser22Asn) variant of XRCC2 (DNA repair protein XRCC2)
S22N (p.Ser22Asn) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- rs1016461143
- ClinGen CA169488183
- ClinVar RCV001025444
- ClinVar RCV003558644
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.72
- CADD 22.40
- PolyPhen-2 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- 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)