L7S (p.Leu7Ser) variant of NAT1 (Arylamine N-acetyltransferase 1)
L7S (p.Leu7Ser) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- gnomAD 8-18216904-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available