Q436R (p.Gln436Arg) variant of FANCA (Fanconi anemia group A protein)
Q436R (p.Gln436Arg) 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 Fanconi anemia complementation group A; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q436R (p.Gln436Arg) variant details
- p.Gln436Arg
- rs2040074214
- ClinGen CA397463949
- ClinVar RCV001376747
- ClinVar RCV001726536
- Pathogenic/Likely pathogenic
- Fanconi anemia complementation group A; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.81
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Fanconi anemia complementation group A; Fanconi anemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)