I32L (p.Ile32Leu) variant of NAT1 (Arylamine N-acetyltransferase 1)
I32L (p.Ile32Leu) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I32L (p.Ile32Leu) variant details
- p.Ile32Leu
- ExAC rs757584542
- TOPMed rs757584542
- gnomAD rs757584542
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.09
- CADD 13.90
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available