K23* (p.Lys23Ter) variant of FAN1 (Fanconi-associated nuclease 1)
K23* (p.Lys23Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K23* (p.Lys23Ter) variant details
- p.Lys23Ter
- gnomAD 15-30904729-T-TTA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 23.50
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available