M48R (p.Met48Arg) variant of NAT1 (Arylamine N-acetyltransferase 1)
M48R (p.Met48Arg) in NAT1 (Arylamine N-acetyltransferase 1) 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.
M48R (p.Met48Arg) variant details
- p.Met48Arg
- gnomAD 8-18222190-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available