R33P (p.Arg33Pro) variant of NAT2 (Arylamine N-acetyltransferase 2)
R33P (p.Arg33Pro) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- gnomAD 8-18400101-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.22
- CADD 17.90
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available