L40P (p.Leu40Pro) variant of NAT2 (Arylamine N-acetyltransferase 2)
L40P (p.Leu40Pro) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- Ensembl rs1800762369
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.39
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available