K13E (p.Lys13Glu) variant of NAT2 (Arylamine N-acetyltransferase 2)
K13E (p.Lys13Glu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- gnomAD rs1800760093
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- REVEL 0.02
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available