R49H (p.Arg49His) variant of FANCA (Fanconi anemia group A protein)
R49H (p.Arg49His) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R49H (p.Arg49His) variant details
- p.Arg49His
- rs766611067
- ClinGen CA8253159
- ClinVar RCV002904191
- ClinVar RCV006342624
- Uncertain significance
- Fanconi anemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0431
- REVEL 0.02
- CADD 1.54
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Fanconi anemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)