F84Y (p.Phe84Tyr) variant of GNAQ (P50148)
F84Y (p.Phe84Tyr) in GNAQ (P50148) is a missense change. 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.
F84Y (p.Phe84Tyr) variant details
- p.Phe84Tyr
- TOPMed rs1192458704
- gnomAD rs1192458704
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.48
- MetaLR 0.64
- MetaSVM 0.08
- CADD 23.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available