G65C (p.Gly65Cys) variant of NAT2 (Arylamine N-acetyltransferase 2)
G65C (p.Gly65Cys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G65C (p.Gly65Cys) variant details
- p.Gly65Cys
- gnomAD 8-18400196-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.52
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available