A43P (p.Ala43Pro) variant of FAN1 (Fanconi-associated nuclease 1)
A43P (p.Ala43Pro) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- gnomAD 15-30904787-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 28.40
- Population evidence available
- Structural context available
- Literature evidence available