L28H (p.Leu28His) variant of NAT2 (Arylamine N-acetyltransferase 2)
L28H (p.Leu28His) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L28H (p.Leu28His) variant details
- p.Leu28His
- gnomAD rs1275931651
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.11
- CADD 18.90
- PolyPhen-2 0.27
- SIFT 0.54
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available