A5T (p.Ala5Thr) variant of NAT2 (Arylamine N-acetyltransferase 2)
A5T (p.Ala5Thr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 8-18400016-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available