R86Q (p.Arg86Gln) variant of CYP19A1 (Aromatase)
R86Q (p.Arg86Gln) in CYP19A1 (Aromatase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs749988131
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53058
- ExAC rs749988131
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.73
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available