I47M (p.Ile47Met) variant of FANCD2 (Fanconi anemia group D2 protein)
I47M (p.Ile47Met) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- rs56405709
- ClinGen CA2249116
- ClinVar RCV002576411
- ClinVar RCV004565618
- Uncertain significance
- Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 14.20
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia; Fanconi anemia complementation group D2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)