H40R (p.His40Arg) variant of XRCC2 (DNA repair protein XRCC2)
H40R (p.His40Arg) 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; XRCC2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- rs777753452
- ClinGen CA4582399
- ClinVar RCV000484587
- ClinVar RCV002350055
- Uncertain significance
- Hereditary cancer-predisposing syndrome; XRCC2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -1.06
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; XRCC2-related disorder;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- 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)