P38A (p.Pro38Ala) variant of FAN1 (Fanconi-associated nuclease 1)
P38A (p.Pro38Ala) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- gnomAD 15-30904775-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.52
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available