S15C (p.Ser15Cys) variant of NAT2 (Arylamine N-acetyltransferase 2)
S15C (p.Ser15Cys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- gnomAD 8-18400047-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.07
- CADD 14.40
- PolyPhen-2 0.56
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available