T54M (p.Thr54Met) variant of GNAQ (P50148)
T54M (p.Thr54Met) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- Ensembl rs2118276725
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available