V35D (p.Val35Asp) variant of NAT2 (Arylamine N-acetyltransferase 2)
V35D (p.Val35Asp) in NAT2 (Arylamine N-acetyltransferase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V35D (p.Val35Asp) variant details
- p.Val35Asp
- gnomAD 8-18400106-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available