P38H (p.Pro38His) variant of FAN1 (Fanconi-associated nuclease 1)
P38H (p.Pro38His) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating 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.
P38H (p.Pro38His) variant details
- p.Pro38His
- gnomAD 15-30904772-G-GCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available