N78S (p.Asn78Ser) variant of CYP19A1 (Aromatase)
N78S (p.Asn78Ser) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N78S (p.Asn78Ser) variant details
- p.Asn78Ser
- rs1422135097
- ClinGen CA392422335
- ClinVar RCV003332599
- TOPMed rs1422135097
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available