L28V (p.Leu28Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
L28V (p.Leu28Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- gnomAD 8-18400085-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.20
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available