Q55* (p.Gln55Ter) variant of FANCA (Fanconi anemia group A protein)
Q55* (p.Gln55Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- rs1555580427
- ClinGen CA397483293
- ClinVar RCV000665360
- ClinVar RCV001387347
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-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)