C44S (p.Cys44Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
C44S (p.Cys44Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C44S (p.Cys44Ser) variant details
- p.Cys44Ser
- TOPMed rs1411878664
- gnomAD rs1411878664
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available