G45V (p.Gly45Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
G45V (p.Gly45Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G45V (p.Gly45Val) variant details
- p.Gly45Val
- cosmic curated COSV10030
- TOPMed rs1236531495
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available