N14K (p.Asn14Lys) variant of NAT2 (Arylamine N-acetyltransferase 2)
N14K (p.Asn14Lys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- ExAC rs774237368
- gnomAD rs774237368
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.04
- CADD 3.44
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available