R19W (p.Arg19Trp) variant of FANCA (Fanconi anemia group A protein)
R19W (p.Arg19Trp) 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; not provided; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs1300733063
- ClinGen CA397484465
- ClinVar RCV001299597
- ClinVar RCV001760347
- Uncertain significance
- Inborn genetic diseases; not provided; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.29
- CADD 22.70
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Fanconi anemia complement)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-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)