P18Q (p.Pro18Gln) variant of RAD51C (O43502)
P18Q (p.Pro18Gln) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- rs754498936
- ClinGen CA400336696
- ClinVar RCV002027397
- ClinVar RCV003382815
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.28
- MetaLR 0.28
- MetaSVM -0.46
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.44
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)