R815Q (p.Arg815Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
R815Q (p.Arg815Gln) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
R815Q (p.Arg815Gln) variant details
- p.Arg815Gln
- rs766567785
- ClinGen CA2250085
- cosmic curated COSV10941
- ClinVar RCV000234321
- Pathogenic
- not provided; Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Fanconi anemia; Fanconi anemia complementation gro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)