P8S (p.Pro8Ser) variant of FAN1 (Fanconi-associated nuclease 1)
P8S (p.Pro8Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- ExAC rs776542535
- TOPMed rs776542535
- gnomAD rs776542535
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.09
- CADD 5.41
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available