I6V (p.Ile6Val) variant of GNAQ (P50148)
I6V (p.Ile6Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- ExAC rs746420387
- TOPMed rs746420387
- gnomAD rs746420387
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.24
- MetaLR 0.39
- MetaSVM -0.59
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available