I59N (p.Ile59Asn) variant of NAT2 (Arylamine N-acetyltransferase 2)
I59N (p.Ile59Asn) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I59N (p.Ile59Asn) variant details
- p.Ile59Asn
- rs773371959
- ClinGen CA4651565
- ClinVar RCV004220398
- ExAC rs773371959
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available