M42V (p.Met42Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
M42V (p.Met42Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- TOPMed rs886633825
- gnomAD rs886633825
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.06
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available