E4D (p.Glu4Asp) variant of NAT2 (Arylamine N-acetyltransferase 2)
E4D (p.Glu4Asp) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- TOPMed rs1800759788
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.04
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available