E49K (p.Glu49Lys) variant of NAT2 (Arylamine N-acetyltransferase 2)
E49K (p.Glu49Lys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- TOPMed rs1189346481
- gnomAD rs1189346481
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.13
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available