F56L (p.Phe56Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
F56L (p.Phe56Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- rs1351458528
- gnomAD 8-18400166-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available