H47R (p.His47Arg) variant of XRCC2 (DNA repair protein XRCC2)
H47R (p.His47Arg) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- rs587780126
- ClinGen CA288126
- ClinVar RCV000115886
- ClinVar RCV001194892
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.83
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Rare variants in XRCC2 as breast cancer susceptibility alleles. (PMID 23054243)
- Cited in: Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2. (PMID 27233470)