K23Q (p.Lys23Gln) variant of FAN1 (Fanconi-associated nuclease 1)
K23Q (p.Lys23Gln) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K23Q (p.Lys23Gln) variant details
- p.Lys23Gln
- TOPMed rs1266926713
- gnomAD rs1266926713
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.09
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available