F7L (p.Phe7Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
F7L (p.Phe7Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- gnomAD 8-18400022-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available