V60L (p.Val60Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
V60L (p.Val60Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- gnomAD 8-18400181-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available