P13S (p.Pro13Ser) variant of FAN1 (Fanconi-associated nuclease 1)
P13S (p.Pro13Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- TOPMed rs2061931437
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.20
- CADD 21.60
- PolyPhen-2 0.48
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available