K11R (p.Lys11Arg) variant of FAN1 (Fanconi-associated nuclease 1)
K11R (p.Lys11Arg) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- TOPMed rs1373989201
- gnomAD rs1373989201
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.28
- CADD 24.10
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available