R115Q (p.Arg115Gln) variant of CYP19A1 (Aromatase)
R115Q (p.Arg115Gln) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R115Q (p.Arg115Gln) variant details
- p.Arg115Gln
- Ensembl rs368138645
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.61
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available