D20Y (p.Asp20Tyr) variant of NAT1 (Arylamine N-acetyltransferase 1)
D20Y (p.Asp20Tyr) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- cosmic curated COSV10732
- ExAC rs759261556
- TOPMed rs759261556
- gnomAD rs759261556
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available