Q41* (p.Gln41Ter) variant of FANCA (Fanconi anemia group A protein)
Q41* (p.Gln41Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- ExAC rs764533094
- gnomAD rs764533094
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available