M42L (p.Met42Leu) variant of NAT2 (Arylamine N-acetyltransferase 2)
M42L (p.Met42Leu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
M42L (p.Met42Leu) variant details
- p.Met42Leu
- TOPMed rs886633825
- gnomAD rs886633825
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.07
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available