L28I (p.Leu28Ile) variant of NAT2 (Arylamine N-acetyltransferase 2)
L28I (p.Leu28Ile) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD 8-18400085-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- CADD 18.00
- PolyPhen-2 0.52
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available