Q18R (p.Gln18Arg) variant of RAD51D (O75771)
Q18R (p.Gln18Arg) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; not specified. 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.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- rs546225564
- ClinGen CA8499700
- ClinVar RCV000219745
- ClinVar RCV000409529
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.02
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.01)
- 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)