D20Y (p.Asp20Tyr) variant of NAT2 (Arylamine N-acetyltransferase 2)
D20Y (p.Asp20Tyr) 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 0.48 / 1. The record also includes population frequency data and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- rs532310930
- ClinGen CA4651541
- ClinVar RCV004472262
- 1000Genomes rs532310930
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.36
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available