I6M (p.Ile6Met) variant of GNAQ (P50148)
I6M (p.Ile6Met) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I6M (p.Ile6Met) variant details
- p.Ile6Met
- ExAC rs779515663
- TOPMed rs779515663
- gnomAD rs779515663
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.31
- MetaLR 0.32
- MetaSVM -0.67
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available