L52F (p.Leu52Phe) variant of FANCC (Fanconi anemia group C protein)
L52F (p.Leu52Phe) 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 Fanconi anemia; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- rs1060502518
- ClinGen CA16612741
- ClinVar RCV000469467
- ClinVar RCV002402274
- Uncertain significance
- Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.25
- MetaLR 0.34
- MetaSVM -0.43
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Uncertain significance (Fanconi anemia; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)