D57Y (p.Asp57Tyr) variant of NAT2 (Arylamine N-acetyltransferase 2)
D57Y (p.Asp57Tyr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D57Y (p.Asp57Tyr) variant details
- p.Asp57Tyr
- rs78003756
- Ensembl rs78003756
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.78
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available