A5E (p.Ala5Glu) variant of NAT2 (Arylamine N-acetyltransferase 2)
A5E (p.Ala5Glu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 8-18400017-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available