D598N (p.Asp598Asn) variant of FANCA (Fanconi anemia group A protein)
D598N (p.Asp598Asn) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D598N (p.Asp598Asn) variant details
- p.Asp598Asn
- rs2039605345
- ClinGen CA397454528
- ClinVar RCV001256368
- UniProt VAR 017497
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.56
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Population evidence available
- Structural context available
- Cited in: Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. (PMID 10094191)
- Cited in: High frequency of large intragenic deletions in the Fanconi anemia group A gene. (PMID 10521298)