R764W (p.Arg764Trp) variant of FANCA (Fanconi anemia group A protein)
R764W (p.Arg764Trp) 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; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R764W (p.Arg764Trp) variant details
- p.Arg764Trp
- rs751572448
- ClinGen CA8251802
- ClinVar RCV001256263
- ClinVar RCV001879787
- Pathogenic/Likely pathogenic
- Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.73
- MetaLR 0.86
- MetaSVM 0.39
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fanconi anemia; Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-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)