A47V (p.Ala47Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
A47V (p.Ala47Val) 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.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD rs1463045225
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.06
- CADD 7.87
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available