I3M (p.Ile3Met) variant of NAT1 (Arylamine N-acetyltransferase 1)
I3M (p.Ile3Met) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I3M (p.Ile3Met) variant details
- p.Ile3Met
- gnomAD 8-18222056-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available