H43P (p.His43Pro) variant of NAT2 (Arylamine N-acetyltransferase 2)
H43P (p.His43Pro) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H43P (p.His43Pro) variant details
- p.His43Pro
- gnomAD rs1175197943
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.37
- CADD 24.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available