Y12C (p.Tyr12Cys) variant of NAT2 (Arylamine N-acetyltransferase 2)
Y12C (p.Tyr12Cys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- ExAC rs755689546
- gnomAD rs755689546
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.20
- CADD 24.20
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available