P45S (p.Pro45Ser) variant of FAN1 (Fanconi-associated nuclease 1)
P45S (p.Pro45Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- gnomAD 15-30904796-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.42
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available