M48V (p.Met48Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
M48V (p.Met48Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- TOPMed rs1165911161
- gnomAD rs1165911161
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.14
- CADD 8.58
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available