M48T (p.Met48Thr) variant of NAT2 (Arylamine N-acetyltransferase 2)
M48T (p.Met48Thr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M48T (p.Met48Thr) variant details
- p.Met48Thr
- gnomAD 8-18400146-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.18
- CADD 18.60
- PolyPhen-2 0.38
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available