E53G (p.Glu53Gly) variant of NAT1 (Arylamine N-acetyltransferase 1)
E53G (p.Glu53Gly) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- Ensembl rs1563197469
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- CADD 21.70
- PolyPhen-2 0.57
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available