Q31E (p.Gln31Glu) variant of NAT2 (Arylamine N-acetyltransferase 2)
Q31E (p.Gln31Glu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q31E (p.Gln31Glu) variant details
- p.Gln31Glu
- gnomAD 8-18400094-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- CADD 23.10
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available