M48K (p.Met48Lys) variant of NAT2 (Arylamine N-acetyltransferase 2)
M48K (p.Met48Lys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M48K (p.Met48Lys) variant details
- p.Met48Lys
- gnomAD 8-18400146-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available