E53Q (p.Glu53Gln) variant of NAT2 (Arylamine N-acetyltransferase 2)
E53Q (p.Glu53Gln) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- TOPMed rs1473213000
- gnomAD rs1473213000
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.07
- CADD 3.38
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available