D57G (p.Asp57Gly) variant of NAT2 (Arylamine N-acetyltransferase 2)
D57G (p.Asp57Gly) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D57G (p.Asp57Gly) variant details
- p.Asp57Gly
- ExAC rs776854665
- gnomAD rs776854665
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.19
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available