I10S (p.Ile10Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
I10S (p.Ile10Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I10S (p.Ile10Ser) variant details
- p.Ile10Ser
- 1000Genomes rs72466456
- ESP rs72466456
- ExAC rs72466456
- TOPMed rs72466456
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.34
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available