Q31K (p.Gln31Lys) variant of NAT2 (Arylamine N-acetyltransferase 2)
Q31K (p.Gln31Lys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- gnomAD 8-18400094-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available