F48L (p.Phe48Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
F48L (p.Phe48Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ovarian cancer; Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- rs750534583
- ClinGen CA2249117
- ClinVar RCV001208882
- ClinVar RCV002497716
- Conflicting interpretations
- Ovarian cancer; Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Ovarian cancer; Fanconi anemia; Fanconi anemia complementation g)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00077)
- 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)