I43V (p.Ile43Val) variant of XRCC2 (DNA repair protein XRCC2)
I43V (p.Ile43Val) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- rs2485882201
- ClinGen CA370199369
- ClinVar RCV002374328
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.05
- CADD 9.98
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)