R302W (p.Arg302Trp) variant of FANCD2 (Fanconi anemia group D2 protein)
R302W (p.Arg302Trp) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
R302W (p.Arg302Trp) variant details
- p.Arg302Trp
- rs121917787
- ClinGen CA256197
- cosmic curated COSV55032
- ClinVar RCV000012820
- Pathogenic/Likely pathogenic
- Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fanconi anemia; Fanconi anemia complementation group D2)
- EBI: Pathogenic (in FANCD2)
- UniProt: Pathogenic (in FANCD2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Cited in: Positional cloning of a novel Fanconi anemia gene, FANCD2. (PMID 11239453)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)