I27T (p.Ile27Thr) variant of XRCC2 (DNA repair protein XRCC2)
I27T (p.Ile27Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I27T (p.Ile27Thr) variant details
- p.Ile27Thr
- rs761161980
- ClinGen CA4582408
- ClinVar RCV001984011
- ClinVar RCV002423209
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- MetaLR 0.13
- MetaSVM -0.80
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)