D36N (p.Asp36Asn) variant of XRCC2 (DNA repair protein XRCC2)
D36N (p.Asp36Asn) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs749538198
- ClinGen CA4582402
- ClinVar RCV000479449
- ClinVar RCV001017195
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)