M48L (p.Met48Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
M48L (p.Met48Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M48L (p.Met48Leu) variant details
- p.Met48Leu
- gnomAD 8-18400145-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- CADD 10.30
- PolyPhen-2 0.06
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available