N75S (p.Asn75Ser) variant of CYP19A1 (Aromatase)
N75S (p.Asn75Ser) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- cosmic curated COSV53058
- TOPMed rs2033433163
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.64
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available