E53D (p.Glu53Asp) variant of NAT2 (Arylamine N-acetyltransferase 2)
E53D (p.Glu53Asp) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- gnomAD 8-18400162-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- CADD 7.31
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available