N137H (p.Asn137His) variant of CYP19A1 (Aromatase)
N137H (p.Asn137His) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data and structural context.
N137H (p.Asn137His) variant details
- p.Asn137His
- ExAC rs777577929
- TOPMed rs777577929
- gnomAD rs777577929
- Uncertain significance
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.71
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Aromatase deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available