I27V (p.Ile27Val) variant of XRCC2 (DNA repair protein XRCC2)
I27V (p.Ile27Val) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- rs1005181554
- ClinGen CA169488182
- ClinVar RCV001027032
- ClinVar RCV001326867
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.02
- MetaLR 0.10
- MetaSVM -1.01
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.13
- 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 2.4e-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)