I43N (p.Ile43Asn) variant of XRCC2 (DNA repair protein XRCC2)
I43N (p.Ile43Asn) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I43N (p.Ile43Asn) variant details
- p.Ile43Asn
- rs1324568176
- ClinGen CA370199367
- ClinVar RCV000732072
- ClinVar RCV002386303
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.41
- AlphaMissense 0.66
- MetaLR 0.36
- MetaSVM -0.21
- CADD 26.30
- PolyPhen-2 0.98
- 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 4.8e-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)