S32P (p.Ser32Pro) variant of FAN1 (Fanconi-associated nuclease 1)
S32P (p.Ser32Pro) 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.
S32P (p.Ser32Pro) variant details
- p.Ser32Pro
- gnomAD 15-30904757-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.50
- CADD 22.20
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available