L7P (p.Leu7Pro) variant of NAT1 (Arylamine N-acetyltransferase 1)
L7P (p.Leu7Pro) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating 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.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs1372282266
- gnomAD 8-18216924-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 13.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available