E8G (p.Glu8Gly) variant of NAT2 (Arylamine N-acetyltransferase 2)
E8G (p.Glu8Gly) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD 8-18400026-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available