N136K (p.Asn136Lys) variant of CYP19A1 (Aromatase)
N136K (p.Asn136Lys) in CYP19A1 (Aromatase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N136K (p.Asn136Lys) variant details
- p.Asn136Lys
- cosmic curated COSV53056
- TOPMed rs1214222558
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.30
- CADD 19.60
- PolyPhen-2 0.51
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available