P52A (p.Pro52Ala) variant of FAN1 (Fanconi-associated nuclease 1)
P52A (p.Pro52Ala) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- ExAC rs766068846
- gnomAD rs766068846
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.54
- CADD 23.80
- PolyPhen-2 0.75
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available