Q14R (p.Gln14Arg) variant of NFE2L2 (Q16236)
Q14R (p.Gln14Arg) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- 1000Genomes rs548183899
- TOPMed rs548183899
- gnomAD rs548183899
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.07
- CADD 28.50
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)