E29Q (p.Glu29Gln) variant of NAT2 (Arylamine N-acetyltransferase 2)
E29Q (p.Glu29Gln) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- TOPMed rs1800761418
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.04
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available