I10M (p.Ile10Met) variant of NAT2 (Arylamine N-acetyltransferase 2)
I10M (p.Ile10Met) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I10M (p.Ile10Met) variant details
- p.Ile10Met
- gnomAD 8-18400033-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available