Y103H (p.Tyr103His) variant of GNAQ (P50148)
Y103H (p.Tyr103His) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y103H (p.Tyr103His) variant details
- p.Tyr103His
- ExAC rs765827868
- TOPMed rs765827868
- gnomAD rs765827868
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.46
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available