L50M (p.Leu50Met) variant of NAT2 (Arylamine N-acetyltransferase 2)
L50M (p.Leu50Met) in NAT2 (Arylamine N-acetyltransferase 2) 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.
L50M (p.Leu50Met) variant details
- p.Leu50Met
- gnomAD rs111750824
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.11
- CADD 14.00
- PolyPhen-2 0.81
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available