F8I (p.Phe8Ile) variant of RAD51C (O43502)
F8I (p.Phe8Ile) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F8I (p.Phe8Ile) variant details
- p.Phe8Ile
- rs1349262257
- ClinGen CA400336256
- ClinVar RCV003618777
- gnomAD rs1349262257
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.05
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)