I6L (p.Ile6Leu) variant of GNAQ (P50148)
I6L (p.Ile6Leu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I6L (p.Ile6Leu) variant details
- p.Ile6Leu
- ExAC rs746420387
- TOPMed rs746420387
- gnomAD rs746420387
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- MetaLR 0.41
- MetaSVM -0.52
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available