K11S (p.Lys11Ser) variant of FAN1 (Fanconi-associated nuclease 1)
K11S (p.Lys11Ser) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K11S (p.Lys11Ser) variant details
- p.Lys11Ser
- rs1160715785
- gnomAD 15-30904694-AAAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 27.80
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available