R18H (p.Arg18His) variant of FANCA (Fanconi anemia group A protein)
R18H (p.Arg18His) 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 Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R18H (p.Arg18His) variant details
- p.Arg18His
- rs772693509
- ClinGen CA8253264
- ClinVar RCV002589406
- ClinVar RCV004973475
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.14
- CADD 8.44
- PolyPhen-2 0.37
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European 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)