L40V (p.Leu40Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
L40V (p.Leu40Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD 8-18222165-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available