H43R (p.His43Arg) variant of NAT2 (Arylamine N-acetyltransferase 2)
H43R (p.His43Arg) 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.
H43R (p.His43Arg) variant details
- p.His43Arg
- gnomAD 8-18400131-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.32
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available