L24S (p.Leu24Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
L24S (p.Leu24Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L24S (p.Leu24Ser) variant details
- p.Leu24Ser
- gnomAD 8-18400074-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available