S11* (p.Ser11Ter) variant of FANCA (Fanconi anemia group A protein)
S11* (p.Ser11Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S11* (p.Ser11Ter) variant details
- p.Ser11Ter
- TOPMed rs1019317682
- gnomAD rs1019317682
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available