R33L (p.Arg33Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
R33L (p.Arg33Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- gnomAD 8-18400101-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.10
- CADD 6.51
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available