Y12S (p.Tyr12Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
Y12S (p.Tyr12Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Y12S (p.Tyr12Ser) variant details
- p.Tyr12Ser
- gnomAD 8-18400038-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.18
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available