Q742K (p.Gln742Lys) variant of FANCA (Fanconi anemia group A protein)
Q742K (p.Gln742Lys) 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.
Q742K (p.Gln742Lys) variant details
- p.Gln742Lys
- rs1239354393
- ClinGen CA397446793
- ClinVar RCV001256592
- gnomAD rs1239354393
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.77
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)