I27L (p.Ile27Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
I27L (p.Ile27Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I27L (p.Ile27Leu) variant details
- p.Ile27Leu
- ExAC rs765487420
- gnomAD rs765487420
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.12
- CADD 20.40
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available