K119N (p.Lys119Asn) variant of CYP19A1 (Aromatase)
K119N (p.Lys119Asn) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
K119N (p.Lys119Asn) variant details
- p.Lys119Asn
- rs2032722258
- ClinGen CA392421234
- ClinVar RCV001120304
- TOPMed rs2032722258
- Uncertain significance
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.25
- MetaLR 0.46
- MetaSVM -0.12
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.36
- ClinVar: Uncertain significance (Aromatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available