K11I (p.Lys11Ile) variant of FAN1 (Fanconi-associated nuclease 1)
K11I (p.Lys11Ile) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K11I (p.Lys11Ile) variant details
- p.Lys11Ile
- rs2061931290
- gnomAD 15-30904694-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 28.20
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available