R24Q (p.Arg24Gln) variant of RAD51C (O43502)
R24Q (p.Arg24Gln) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Inherited breast cancer a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs777554369
- ClinGen CA8677136
- ClinVar RCV000220751
- ClinVar RCV000529013
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Inherited breast cancer a
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.19
- CADD 28.80
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Inherited)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)