S22I (p.Ser22Ile) variant of XRCC2 (DNA repair protein XRCC2)
S22I (p.Ser22Ile) 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 0.38 / 1. The record also includes published literature and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- rs1016461143
- ClinGen CA370199513
- ClinVar RCV003377789
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.72
- PolyPhen-2 0.28
- SIFT 0.20
- EVE 0.49
- 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)