P38S (p.Pro38Ser) variant of FAN1 (Fanconi-associated nuclease 1)
P38S (p.Pro38Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD 15-30904775-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.58
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available