K18S (p.Lys18Ser) variant of NAT1 (Arylamine N-acetyltransferase 1)
K18S (p.Lys18Ser) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K18S (p.Lys18Ser) variant details
- p.Lys18Ser
- rs1469938508
- gnomAD 8-18219426-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 22.40
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available