K11E (p.Lys11Glu) variant of FAN1 (Fanconi-associated nuclease 1)
K11E (p.Lys11Glu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- gnomAD 15-30904694-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- CADD 26.50
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available