D20H (p.Asp20His) variant of NAT2 (Arylamine N-acetyltransferase 2)
D20H (p.Asp20His) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D20H (p.Asp20His) variant details
- p.Asp20His
- gnomAD 8-18400061-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.26
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available