N12K (p.Asn12Lys) variant of CYP19A1 (Aromatase)
N12K (p.Asn12Lys) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- ExAC rs759093146
- gnomAD rs759093146
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.23
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available