G65D (p.Gly65Asp) variant of NAT2 (Arylamine N-acetyltransferase 2)
G65D (p.Gly65Asp) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- TOPMed rs1019316375
- gnomAD rs1019316375
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.53
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available