G45R (p.Gly45Arg) variant of NAT1 (Arylamine N-acetyltransferase 1)
G45R (p.Gly45Arg) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- 1000Genomes rs181298696
- TOPMed rs181298696
- gnomAD rs181298696
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available