S29F (p.Ser29Phe) variant of RAD51C (O43502)
S29F (p.Ser29Phe) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- rs876659683
- ClinGen CA10580722
- ClinVar RCV000223596
- ClinVar RCV000586089
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)