I3V (p.Ile3Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
I3V (p.Ile3Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- TOPMed rs868623536
- gnomAD rs868623536
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.04
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available