I27V (p.Ile27Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
I27V (p.Ile27Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- gnomAD 8-18400082-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.07
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available