L28R (p.Leu28Arg) variant of NAT1 (Arylamine N-acetyltransferase 1)
L28R (p.Leu28Arg) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L28R (p.Leu28Arg) variant details
- p.Leu28Arg
- TOPMed rs1805367381
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available