P13R (p.Pro13Arg) variant of FAN1 (Fanconi-associated nuclease 1)
P13R (p.Pro13Arg) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- ExAC rs770014670
- gnomAD rs770014670
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.73
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available