N30D (p.Asn30Asp) variant of XRCC2 (DNA repair protein XRCC2)
N30D (p.Asn30Asp) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- rs2098032739
- ClinGen CA370199463
- ClinVar RCV003305384
- Ensembl rs2098032739
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.08
- CADD 12.70
- SIFT 0.21
- 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 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)