L52* (p.Leu52Ter) variant of NAT1 (Arylamine N-acetyltransferase 1)
L52* (p.Leu52Ter) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L52* (p.Leu52Ter) variant details
- p.Leu52Ter
- gnomAD 8-18222202-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 34.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available