V17M (p.Val17Met) variant of CYP19A1 (Aromatase)
V17M (p.Val17Met) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aromatase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- rs200111039
- ClinGen CA7560176
- cosmic curated COSV53058
- ClinVar RCV000344503
- Conflicting interpretations
- Aromatase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Aromatase deficiency; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available