L28P (p.Leu28Pro) variant of NAT2 (Arylamine N-acetyltransferase 2)
L28P (p.Leu28Pro) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 8-18400086-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available