R1055Q (p.Arg1055Gln) variant of FANCA (Fanconi anemia group A protein)
R1055Q (p.Arg1055Gln) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FANCA-related disorder; Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R1055Q (p.Arg1055Gln) variant details
- p.Arg1055Gln
- rs1429943036
- ClinGen CA397486565
- ClinVar RCV001256511
- ClinVar RCV001879795
- Pathogenic/Likely pathogenic
- FANCA-related disorder; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (FANCA-related disorder; Fanconi anemia; Fanconi anemia complemen)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)