L52S (p.Leu52Ser) variant of NAT1 (Arylamine N-acetyltransferase 1)
L52S (p.Leu52Ser) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L52S (p.Leu52Ser) variant details
- p.Leu52Ser
- rs754881386
- gnomAD 8-18219479-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 14.60
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Literature evidence available