R63I (p.Arg63Ile) variant of FANCC (Fanconi anemia group C protein)
R63I (p.Arg63Ile) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
R63I (p.Arg63Ile) variant details
- p.Arg63Ile
- rs1588350373
- ClinGen CA374340117
- ClinVar RCV001030470
- Ensembl rs1588350373
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -1.02
- PolyPhen-2 0.92
- SIFT 0.24
- EVE 0.32
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)