D20V (p.Asp20Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
D20V (p.Asp20Val) 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.
D20V (p.Asp20Val) variant details
- p.Asp20Val
- TOPMed rs1456672837
- gnomAD rs1456672837
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.45
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available