K18N (p.Lys18Asn) variant of NAT1 (Arylamine N-acetyltransferase 1)
K18N (p.Lys18Asn) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating 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.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- rs1160764723
- gnomAD 8-18222098-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available