I6F (p.Ile6Phe) variant of GNAQ (P50148)
I6F (p.Ile6Phe) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I6F (p.Ile6Phe) variant details
- p.Ile6Phe
- ExAC rs746420387
- TOPMed rs746420387
- gnomAD rs746420387
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.38
- MetaLR 0.38
- MetaSVM -0.51
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available