L42R (p.Leu42Arg) variant of FAN1 (Fanconi-associated nuclease 1)
L42R (p.Leu42Arg) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L42R (p.Leu42Arg) variant details
- p.Leu42Arg
- ExAC rs759899724
- gnomAD rs759899724
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.74
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available