L19V (p.Leu19Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
L19V (p.Leu19Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 8-18222102-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0533
- REVEL 0.04
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available