I43S (p.Ile43Ser) variant of XRCC2 (DNA repair protein XRCC2)
I43S (p.Ile43Ser) 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 0.52 / 1. The record also includes published literature and structural context.
I43S (p.Ile43Ser) variant details
- p.Ile43Ser
- rs1324568176
- ClinGen CA370199365
- ClinVar RCV004521351
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.66
- MetaLR 0.36
- MetaSVM -0.21
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.65
- 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)