I27M (p.Ile27Met) variant of XRCC2 (DNA repair protein XRCC2)
I27M (p.Ile27Met) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I27M (p.Ile27Met) variant details
- p.Ile27Met
- rs773847550
- ClinGen CA4582407
- ClinVar RCV003176494
- ExAC rs773847550
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -0.97
- CADD 15.50
- PolyPhen-2 0.08
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)