W932R (p.Trp932Arg) variant of FANCA (Fanconi anemia group A protein)
W932R (p.Trp932Arg) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W932R (p.Trp932Arg) variant details
- p.Trp932Arg
- rs2038969261
- ClinGen CA397433831
- ClinVar RCV001256275
- Ensembl rs2038969261
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.89
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)