L19M (p.Leu19Met) variant of NAT1 (Arylamine N-acetyltransferase 1)
L19M (p.Leu19Met) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 8-18222102-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- REVEL 0.08
- CADD 3.38
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available