L21S (p.Leu21Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
L21S (p.Leu21Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L21S (p.Leu21Ser) variant details
- p.Leu21Ser
- gnomAD 8-18400065-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.26
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available