P8A (p.Pro8Ala) variant of FAN1 (Fanconi-associated nuclease 1)
P8A (p.Pro8Ala) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- ExAC rs776542535
- TOPMed rs776542535
- gnomAD rs776542535
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.22
- CADD 5.25
- PolyPhen-2 0.09
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available