D34N (p.Asp34Asn) variant of XRCC2 (DNA repair protein XRCC2)
D34N (p.Asp34Asn) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs1563030168
- ClinGen CA370199439
- ClinVar RCV004521348
- TOPMed rs1563030168
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -0.91
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)