A26H (p.Ala26His) variant of FAN1 (Fanconi-associated nuclease 1)
A26H (p.Ala26His) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A26H (p.Ala26His) variant details
- p.Ala26His
- rs2061932936
- gnomAD 15-30904738-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 23.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available