H40Q (p.His40Gln) variant of XRCC2 (DNA repair protein XRCC2)
H40Q (p.His40Gln) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H40Q (p.His40Gln) variant details
- p.His40Gln
- rs1306014974
- ClinGen CA370199395
- ClinVar RCV001911616
- ClinVar RCV002359386
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -1.04
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)