I42T (p.Ile42Thr) variant of NAT1 (Arylamine N-acetyltransferase 1)
I42T (p.Ile42Thr) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- gnomAD rs1355361339
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available