C44Y (p.Cys44Tyr) variant of NAT2 (Arylamine N-acetyltransferase 2)
C44Y (p.Cys44Tyr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C44Y (p.Cys44Tyr) variant details
- p.Cys44Tyr
- gnomAD 8-18400134-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available