R63T (p.Arg63Thr) variant of FANCC (Fanconi anemia group C protein)
R63T (p.Arg63Thr) 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 cancer-predisposing syndrome; Fanconi anemia. 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.
R63T (p.Arg63Thr) variant details
- p.Arg63Thr
- rs1588350373
- ClinGen CA374340118
- ClinVar RCV001013465
- ClinVar RCV001320346
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.19
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -1.02
- CADD 21.40
- PolyPhen-2 0.92
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)